Lavori in extenso su riviste e libri
1) DOTTI MT, SEGRE G.
Effetti collaterali delle benzodiazepine.
Farmaci 1977,3/4:45-50
2) DOTTI MT.
Gli ipnotici
Farmaci 1977,11:37-41
3) DOTTI MT.
Una associazione di clofibrato e acido nicotinico è utile nella prevenzione del
reinfarto del miocardio
Farmaci 1977,12:47
4) SEGRE G, DOTTI MT.
La farmacocinetica delle sulfoniluree
Atti del Congresso "Giornate Internazionali di Diabetologia", Roma 1977, pp
271-288
5) DOTTI MT, SEGRE G.
Psicofarmaci e biochimica cerebrale
Farmaci 1978,5:195-205
6) DOTTI MT.
L'aminaftone
L'Intervista Medica 1978,10:27-31
7) DOTTI MT, SEGRE G.
I più frequenti errori del medico nell'ipertensione essenziale
Farmaci 1978,11:553-558
8) BRUNI G, DAL PRA P, DOTTI MT, SEGRE G.
Plasma ACTH and cortisol levels in benzodiazepines treated rats
Pharmacological Research Communications 1980,12 (2):163-165
9) BRUNI G, DAL PRA P, DOTTI MT, SEGRE G.
Effect of various antinflammatory drugs on plasma ACTH and cortisol levels in
rats
Pharmacological Research Communications 1980,12 (4):349-357
10) SEGRE G, DOTTI MT.
Saper prescrivere: Un Tranquillante
ESAM ed. Roma 1980
11) DOTTI MT, ROSSI A, RIZZUTO N, HAYEK G, BARDELLI N, BARDELLI AM,
FEDERICO A.
Atypical phenotype of Refsum's disease: clinical, biochemical,
neurophysiological and phatological study
European Neurology 1985,24:85-93 (IF 1.104)
12) VOLPI N, DOTTI MT, GIANNINI F, CAPPELLI B, TERROSI-VAGNOLI P,
FEDERICO A.
Familial multiple exostoses syndrome: a phacomatosis of bone tissue
Acta Neurologica 1986,8:516-526
13) FEDERICO A, PALLINI R, BARDELLI AM, FABRIZI GM, MANGANO L,
MANNESCHI L, DOTTI MT.
Patogenesi biochimica della malattia di Leber
Atti 3° Congresso Nazionale di Oftalmologia Pediatrica, Roma 1986, pp 243252
14) DOTTI MT, FEDERICO A, POLITO E, GUAZZI GC.
Oftalmoplegie croniche progressive a patogenesi mitocondriale
Atti 3° Congresso Nazionale di Oftalmologia Pediatrica, Roma 1986, pp 223241
15) FEDERICO A, AITIANI P, LOMONACO B, BARDELLI AM, DOTTI MT,
PALLINI R, GUAZZI GC.
Electrocardiographic abnormalities in Leber's hereditary optic atrophy
Journal of Inherited Metabolic Diseases 1987,10 (suppl 2):256-259 (IF 1.632)
16) DOTTI MT, ANNUNZIATA P, D'AMORE I, TERROSI VAGNOLI P, VENTURI C,
FEDERICO A.
Adrenoleukodystrophy: a genetic, clinical, biochemical, and computed
tomographic study of four patients in three different families
Acta Neurologica 1987,9:178-190
17) DOTTI MT, FEDERICO A, ANNUNZIATA P, BONUCCELLI U, CIACCI G,
MALANDRINI A, MANNESCHI L, PUCCI AM, GUAZZI GC.
Adreno-leuco-mieloneuropatia dell'adulto: una probabile variante clinica
dell'adrenoleucodistrofia infantile
Patologia genetica ad esordio tardivo, Andria G, Dagna Bricarelli F, Del Porto G,
De Marchi M, Federico A. (eds), Monduzzi Editore 1987, p 571-575
18) PALLINI R, DOTTI MT, DI NATALE P ,ALESSANDRINI C, GUAZZI GC,
FEDERICO A.
Leber's hereditary optic atrophy: rhodanese activity and ultrastructural findings
in liver biopsy
Brain Dysfunction 1988,1:331-334
19) FEDERICO A, DOTTI MT, HAYEK G, MALANDRINI A, SIMONATI A, TOTI P,
BARDELLI N, RIZZUTO N, GUAZZI GC.
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases
Neuropediatrics 1988,19:109-112 (IF 0.959)
20) FEDERICO A, DOTTI MT, MELONI M, GAGGELLI E, VIVI A, VALENSIN G.
H-1 NMR analysis of CSF in normal subjects and in a case of mitochondrial
encephalo-neuro-myopathy
Magnetic Resonance in Medicine and Biology 1988,1:305-313
21) FEDERICO A, DOTTI MT, ANNUNZIATA P, BONUCCELLI U, FENZI G,
CIACCI G, MALANDRINI A, MEUCCI G, GUAZZI GC.
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a
multiple autoimmune disorder.
Journal of Inherited Metabolic Diseases 1988; 11 (suppl 2): 169-172 (IF
1.632)
22) FEDERICO A, BARACCHINI C, DOTTI MT, IBBA L, MALANDRINI A, CIACCI
G, MELONI M, PALMERI S, GUAZZI GC.
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl
associated with congenital adrenal insufficiency and altered plasma medium
chain fatty acid levels
Journal of Inherited Metabolic Diseases 1988, 11 (suppl 2): 178-182 (IF 1.632)
23) FEDERICO A, MANNESCHI L, MELONI M, ALESSANDRINI C, BARDELLI AM
DOTTI MT, SABATELLI P.
Histochemical, ultrastructural and biochemical study of muscle mitochondria in
Leber's hereditary optic atrophy
Journal of Inherited Metabolic Diseases 1988, 11 (suppl 2): 193-197 (IF 1.632)
24) FEDERICO A, MANNESCHI L, SABATELLI P, DOTTI MT, IBBA L, GERLI R.
Morphometric and biochemical study of muscle mitochondria in adult chronic
progressive external ophthalmoplegia
Journal of Inherited Metabolic Diseases 1988, 11 (suppl 2): 198-201 (IF 1.632)
25) MANGANO L, PALMERI S, DOTTI MT, MOSCHINI F, FEDERICO A.
Macrosomia and mental retardation: evidence of autosomal dominant
inheritance in four generations
American Journal of Medical Genetics 1989,32:67-71 (IF 2.334)
26) FABRIZI GM, DOTTI MT, FEDERICO A, GUAZZI GC.
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali
Bollettino di Oculistica 1989, 68 (suppl 5): 83-90
27) MONDELLI M, ROSSI A, SCARPINI C, DOTTI MT, FEDERICO A.
BAEP changes in Leber's hereditary optic atrophy: a further confirmation of
multisystem involvement
Acta Neurologica Scandinavica 1990,81:349-353 (IF 1.358)
28) FEDERICO A, PALMERI S, FABRIZI GM, MANGANO L, DOTTI MT, MIRACCO
C, TRIPALDELLI L, GUAZZI GC.
Hypomelanosis of Ito (Incontinentia pigmenti achromians): a case report with
brain nuclear magnetic resonance imaging abormalities
Brain Dysfunction 1990,2:262-267
29) FEDERICO A, DOTTI MT, FABRIZI GM, PALMERI S, MASSIMO B,
ROBINSON BH, MALANDRINI A, GUAZZI GC.
Congenital lactic acidosis due to a defect of PDH complex (E1). Clinical,
biochemical, nerve biopsy study and effect of therapy
European Neurology 1990,30:123-127 (IF 1.104)
30) DOTTI MT, FEDERICO A, PALMERI S, GUAZZI GC.
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant
inheritance in two families
Acta Neurologica 1990,1:434-438
31) FEDERICO A, DOTTI MT, PALMERI S.
Le encefalo-neuro-miopatie genetiche dismetaboliche come causa di
neurohandicap
Quaderni di Acta Neurologica 1990, LV: 1-22
32) FEDERICO A, FABRIZI GM, DOTTI MT, PALMERI S, AGUGLIA U, MIRACCO
C, GUAZZI GC.
Neurocutaneous syndromes with pigmentary abnormalities and central nervous
system involvement
Acta Neurologica 1990,12:264-272
33) FEDERICO A, HAYEK G, ZAPPELLA M, BATTISTINI S, DOTTI MT, EUSEBI
MP, FABRIZI GM, MALANDRINI A, PALMERI S, GUAZZI GC.
A strategy of investigation on the metabolic pathogenesis of autistic syndrome
Brain Dysfunction 1990,3:97-98
34) FEDERICO A, BATTISTINI S, DE STEFANO N, EUSEBI MP, FABRIZI GM,
DOTTI MT.
The strategy of investigating autistic syndrome in childhood
Brain Dysfunction 1990,3:261-270
35) FABRIZI GM, DOTTI MT, EUSEBI MP, FEDERICO A.
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber
(LHON)
Atti V Congresso Nazionale FISME, Perugia 1990, pp 83-86
36) DOTTI MT, VECCHIONE V, BATTISTINI S, DE STEFANO N, FEDERICO A.
Ritardo mentale X-legato e habitus marfanoideo: presentazione di un nuovo
caso
Atti V Congresso Nazionale FISME, Perugia 1990, pp 129-131
37) DOTTI MT, FEDERICO A, ANNUNZIATA P, EUSEBI MP, MALANDRINI A,
SALVADORI C, GUAZZI GC.
Autoimmunitary changes in adrenoleukodystrophy and
adrenomyeloneuropathy
In, Uziel G, Wonders RJA, Cappa M, eds: Adrenoleukodystrophy and other
peroxisomal disorders, Elsevier Publ. 1990: 105-114
38) MALANDRINI A, FEDERICO A, DOTTI MT, VOLPI N, GUARNA M, DEL
VECCHIO MT, LEONCINI L, GUAZZI GC.
Neuropathological study of a case of adrenomyeloneuropathy with late cerebral
involvement and multiple endocrine disorders including the presence of adrenal
myelolipoma
In, Uziel G, Wonders RJA, Cappa M, eds: Adrenoleukodystrophy and other
peroxisomal disorders, Elsevier Publ. 1990: 115-124
39) MONDELLI M, ROSSI A, SCARPINI C, DOTTI MT, FEDERICO A.
Leber's hereditary optic atrophy: VEP and BAEP changes in 16 asymptomatic
subjects
Acta Neurologica Scandinavica (letter) 1991,84:366 (IF 1.358)
40) DOTTI MT, SALEN G, FEDERICO A.
Cerebrotendinous xanthomatosis as a multisystem disease mimicking
premature ageing
Developmental Neurosciences 1991,13:371-376 (IF 2.118)
41) FEDERICO A, DOTTI MT, VOLPI N.
Muscle mitochondrial changes in cerebrotendinous xanthomatosis
Annals of Neurology 1991,30: 734-735 (IF 8.603)
42) MONDELLI M, ROSSI A, SCARPINI C, DOTTI MT, FEDERICO A.
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by
chenodeoxycholic acid
Archives of Neurology 1992,49:469-475 (IF 4.336)
43) DOTTI MT, CAPUTO N, SIGNORINI E, FEDERICO A.
Magnetic Resonance Imaging findings in Leber's hereditary optic atrophy
European Neurology 1992,32:17-19 (IF 1.104)
44) FEDERICO A, DOTTI MT, MALANDRINI A, MANNESCHI L, PLEWNIA K,
GUAZZI GC:
Ruolo patogenetico dei mitocondri nella sindrome di Rett: una ipotesi di lavoro.
Rassegna di Studi Psichiatrici 1992, LXXXI:196-205
45) FEDERICO A, BATTISTINI S, DE STEFANO N, DOTTI MT, FABRIZI G,
MALANDRINI A, MANNESCHI L, GUAZZI GC:
Late onset mitochondrial encephaloneuromyopathies.
Italian Journal of Neurological Sciences 1992, Suppl 1: 41-49.
46) FEDERICO A, DOTTI MT, GUAZZI GC.
Le encefaloneuromiopatie genetiche dismetaboliche
In: Manuale di Neurofarmacoterapia, Il Pensiero Scientifico Ed, 1992: 179-186
47) DOTTI MT, VENTURI C, FEDERICO A, SIGNORINI E, GUAZZI GC.
Xantomatosi cerebrotendinea: la malattia di van Bogaert-Scherer-Epstein.
Studio neuroradiologico in 12 casi.
In, Scotti G ed.: Neuroradiologia, Ed. del Centauro, Udine 1992, vol I: 399403.
48) DOTTI MT, MALANDRINI A, MANFREDI M, CAPUTO N, SIGNORINI E,
GUZZI GC.
Adrenoleucodistrofia: la forma infantile e le forme dell'adulto.
In, Scotti G ed.: Neuroradiologia, Ed. del Centauro, Udine 1992, vol I: 317322.
49) MANNESCHI L, DOTTI MT, BATTISTI C, BATTISTINI S, DE STEFANO N,
FEDERICO A.
Sindromi extrapiramidali, malattia di Parkinson ed alterazioni del metabolismo
mitocondriale.
Atti XIX Riunione L.I.M.P.E. "Neuroprotezione e fattori trofici delle malattie
extrapiramidali", Roma 1992, 41-50
50) FEDERICO A, DOTTI MT.
Dalla clinica alla diagnostica biochimico-molecolare delle encefalo-neuromiopatie genetiche dismetaboliche
Annali di Neurologia e Psichiatria 1992,86:3-13
51) DOTTI MT, MANNESCHI L, MALANDRINI A, DE STEFANO N, CARNEVALE F,
FEDERICO A.
Mitochondrial dysfunction in Rett syndrome: ultrastructural and biochemical
study.
Brain & Developement 1993,15:103-106
52) FEDERICO A, DOTTI MT, LORE F, NUTI R.
Cerebrotendinous xanthomatosis: pathophysiological study on bone
metabolism
Journal Neurological Sciences 1993,115:67-70 (IF 2.080)
53) MALANDRINI A, DE STEFANO N, DOTTI MT, VECCHIONE V, FEDERICO A:
Sensory-motor hereditary neuropathy with early onset
Acta Neurologica 1993,15: 81-86
54) DOTTI MT, BARDELLI AM, DE STEFANO N, FEDERICO A, MALANDRINI A,
VANNI M, GUAZZI GC:
Optic atrophy in Marinesco-Sjogren syndrome: an additional ocular feature.
Report of three cases in two families
Ophthalmic Paediatrics and Genetics 1993,14:5-7
55) FEDERICO A, BATTISTI C, BATTISTINI S, DE STEFANO N, MANNESCHI L,
DOTTI MT.
Leucodistrofie: dal sospetto clinico alla certezza diagnostica biochimicomolecolare
Atti II Meeting Invernale di Scienze Neurologiche, Madonna di Campiglio 1993,
pp 45-52
56) DOTTI MT, MALANDRINI A, BARTOLINI S, FABRIZI GM, FEDERICO A.
Mental retardation with marfanoid syndrome: presentation of a family with
different phenotypical expression
Brain & Development 1993,15:291-294 (IF 0.859)
57) FEDERICO A, DOTTI MT.
Diagnosi biochimico-molecolare delle neuropatie genetiche a chiave
dismetabolica nota
Rivista Italiana di Neuroscienze 1993,1:44-49
58) BATTISTI C, DOTTI MT, SCARINCI R, MANNESCHI L, FEDERICO A.
Un caso di sindrome di Prader Willi con fenotipo atipico e delezione del
cromosoma 15 (q11q13)
Nuova Rivista di Neurologia 1993,3:276-279
59) MANNESCHI L, DOTTI MT, BATTISTI C, MALANDRINI A, CANTISANI TA,
BRUNORI P, PRESCIUTTI O, FEDERICO A.
Central core disease: studio clinico, istologico, biochimico ed NMR
spettroscopico di un caso
Nuova Rivista di Neurologia 1993,3:280-283.
60) DOTTI MT, BATTISTI C, MANNESCHI L, FEDERICO A.
Parkinsonismo in corso di terapia con amiodarone
Atti XX Riunione L.I.M.P.E. "Patologia extrapiramidale degenerativa e
iatrogena", 1993:351-355.
61) DE STEFANO N, DOTTI MT, MALANDRINI A, FEDERICO A.
Association of myopathy with multiple exostoses and mental retardation: a
case report
Brain & Development 1994,16:136-138. (IF 0.859)
62) DOTTI MT, FEDERICO A, SIGNORINI E, CAPUTO N, VENTURI C, FILOSOMI
G, GUAZZI GC.
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT
and MR findings
American Journal of Neuroradiology 1994,15:1721-1726 (IF 2.463)
63) MACUCCI M, DOTTI MT, BATTISTINI S, DE STEFANO N, VECCHIONE V,
OREFICE G, MALANDRINI A, FEDERICO A.
Primary antiphospholipid syndrome: two case reports, one with histological
examination of skin, peripheral nerve and muscle
Acta Neurologica 1994,16:87-96
64) DOTTI MT, SIGNORINI E, CAPUTO N, BARDELLI AM, CIACCI G, FEDERICO
A, GUAZZI GC.
MRI findings in Marinesco-Sjogren syndrome. Report of trhee cases with
unusual features
Neuro-Ophthalmology 1994,14: 131-133
65) DOTTI MT, FEDERICO A, GUAZZI GC.
Atassia telangiectasia: aspetti neurologici e neuroradiologici
Nuova Rivista di Neurologia 1994,4:113-117
66) FEDERICO A, DOTTI MT.
Treatment of cerebrotendinous xanthomatosis.
Neurology (letter) 1994,44:2218 (IF 5.340)
67) FEDERICO A, DOTTI MT.
Dalla clinica alla diagnosi patogenetica delle malattie neurometaboliche:
collegamenti tra strutture con diversi livelli di intervento
Il Cesalpino 1994,1:9-13
68) DOTTI MT, FEDERICO A.
Strategia diagnostica delle sindromi autistiche
Neurologia '94. XII Corso di Aggiornamento della Società Italiana di
Neurologia, Fieschi C, Federico A, Federico F, Toso V, Trojano M eds, CIC
Edizioni Internazionali, p 305-309
69) FEDERICO A, MANNESCHI L, BATTISTI C, DOTTI MT.
Is Parkinson disease a mitochondrial disorder?
In: New advances in Parkinson's disease and other extrapyramidal disorders.
Nappi G, Caraceni T, Martignoni E, Giovannini P (eds). Smith-Gordon 1994, pp
33-40
70) DOTTI MT, MALANDRINIA, BARTOLINI S, FABRIZI GM, FEDERICO A.
Insufficienza mentale associata a sindrome marfanoidea: descrizione di una
famiglia con differenti espressioni fenotipiche
Search Psichiatria 1994,2:15-16
71) BATTISTI C, DOTTI MT, MANNESCHI L, FEDERICO A.
Increase of serum levels of vitamin E during human aging: is it a protective
factor against death?
Achives of Gerontology and Geriatrics, 1994,17 suppl 4:13-18. (IF 0.681)
72) MANNESCHI L, DOTTI MT, BATTISTI C, DE STEFANO N, FEDERICO A.
Muscle respiratory chain enzyme activities in Parkinson's disease and in
multisystem extrapyramidal disorders with Parkinsonism as the main clinical
feature
Archives of Gerontology and Geriatrics, 1994,17 suppl 4:155-161. (IF 0.681)
73) ALBANO G, BATTISTI C, FORMICHI P, DOTTI MT, MORCALDO L,
FEDERICO A.
Discinesie tardive: studio clinico e biochimico
Atti XXI Riunione LIMPE, Palermo 1994, pp 91-105.
74) FEDERICO A, DOTTI MT, MACUCCI M.
La diagnosi pre-perinatale delle encefalo-neuro-miopatie genetiche
dismetaboliche
In : Neuroscienze di interesse ostetrico-ginecologico, Zara C e Nappi G eds.
Selecta Neurologica Ask Edizioni, 1994, vol I, pp 35-43
75) FEDERICO A, BATTISTI C, DOTTI MT.
La terapia delle encefaloneuromiopatie genetiche
In : Neuroscienze di interesse ostetrico-ginecologico, Zara C, Nappi G eds.
Selecta Neurologica Ask Edizioni, 1994 vol I: pp 51-57
76) MACUCCI M, DOTTI MT, FEDERICO A.
Sindrome primaria da anticorpi antifosfolipidi
In: Neuroscienze di Interesse ostetrico-ginecologico, Zara C, Nappi G eds.
Selecta Neurologica Ask Edizioni, 1994 vol IV: pp 41-47
77) DOTTI MT, FEDERICO A.
Amiodarone induced parkinsonism: a case report and pathogenetic discussion
Movement Disorders 1995,10 (2):233-234 (IF 2.895)
78) DOTTI MT, DE STEFANO N, VECCHIONE V, CORRERA G, FEDERICO A.
Cerebral thromboangiitis obliterans (CTAO): clinical and neuroradiological
evidences in a case
European Neurology 1995,35:246-248 (IF 1.104)
79) DOTTI MT, MANNESCHI L, FEDERICO A
Mitocondrial enzyme deficiency in CTX
Journal of Neurological Sciences 1995,129:106-108 (IF 2.080)
80) MACUCCI M, DOTTI MT, FEDERICO A.
Familial acute dystonic-dyskinetic syndrome with dominant inheritance after
use of antidopaminergic antiemetic drugs
Movement Disorders 1995,10:528-529 (IF 2.895)
81) DOTTI MT, FEDERICO A.
Le encefalopatie genetiche dismetaboliche come modello di studio della
sindrome autistica
Phoenix 1995,2:107-113
82) BATTISTI C, DOTTI MT, MANNESCHI L, BARACCHINI MURATORIO G,
FEDERICO A.
Propionico acidemia: studio clinico, biochimico e follow-up terapeutico
Phoenix 1995,2:43-50
83) MANNESCHI L, CAVALLARO T, DOTTI MT, SAGINARIO A, BATTISTI C,
FEDERICO A.
Studio clinico, biochimico e morfologico di un caso di deficit di fosforilasi
muscolare
Nuova Rivista di Neurologia 1995,5:17-20
84) DOTTI MT, BATTISTI C, MANNESCHI L, SAGINARIO A, FEDERICO A.
Corea acantocitosi: studio clinico di due casi familiari
Atti XXII Riunione LIMPE, L'approccio interdisciplinare alle patologie
extrapiramidali, Trieste 1995:183-190
85) DOTTI MT, MACUCCI M, FEDERICO A.
Reazione distonica acuta familiare dopo l'assunzione di farmaci
antidopaminergici antiemetici
Atti XXII Riunione LIMPE, L'approccio interdisciplinare alle malattie
extrapiramidali, Trieste 1995:451-454
86) FEDERICO A, BATTISTI C, FORMICHI P, DOTTI MT.
Plasma levels of vitamin E in Parkinson's disease
Journal of Neural Transmission 1995,45:267-270 (IF 2.289)
87) FABRIZI GM, CARDAIOLI E, GRIECO GS, CAVALLARO T, MALANDRINI A,
MANNESCHI L, DOTTI MT, FEDERICO A, GUAZZI GC.
The A to G transition at nt 3243 of the mitochondrial tRNAleu(UUR) may cause
a MERRF syndrome
Journal of Neurology Neurosurgery and Psychiatry 1996,61:47-51 (IF 2.939)
88) BATTISTI C, DOTTI MT, FORMICHI P, BONUCCELLI U, MALANDRINI A,
CARRAI M, TRIPODI SA, FEDERICO A.
Disappearance of skin lipofuscin storage and marked clinical improvement in
adult onset coeliac disease and severe vitamin E deficiency after chronic
vitamin E megatherapy
Journal of Submicroscopic Cytology and Pathology 1996,28(3):339-344
89) FEDERICO A, DOTTI MT.
Cerebrotendinous xanthomatosis
In: Handbook of Clinical Neurology, Vinken PJ, Bruyn GW, eds. Helsevier
Science B.V. 1966 (vol 66), chap.28:599-613
90) FEDERICO A, DOTTI MT.
Diagnosi delle malattie neurometaboliche ad esordio in età adulta
presentantesi come demenza
Atti Corso di aggiornamento tra normalità e patologia. VII Giornate
Psichiatriche in Lampedusa, 1996:336-343
91) LINDENTHAL B, SIMATUPANG A, DOTTI MT, FEDERICO A, VON
BERGMANN K.
Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis
Journal of Lipid Research 1996,37:2193-2201 (IF 3.730)
92) GARUTI R, LELLI N, BAROZZINI M, DOTTI MT, FEDERICO A, BERTOLINI
S, CALANDRA S.
Partial deletion of the gene encoding sterol 27-hydroxilase in a subject with
cerebrotendinous xanthomatosis
Journal of Lipid Research 1996,37:662-672 (IF 3.730)
93) GARUTI R, LELLI N, BAROZZINI M, TIOZZO R, DOTTI MT, FEDERICO A,
OTTOMANO AM, BERTOLINI S, CALANDRA S.
Cerebrotendinous xanthomatosis caused by two new mutations of sterol-27hydroxylase gene that disrupt mRNA splacing
Journal of Lipid Research 1996,37:1459-1467 (IF 3.730)
94) FEDERICO A, DOTTI MT.
I disturbi del comportamento come primo segno di patologia neurologica nel
bambino e nel giovane adulto
Neurologia 1996. Corso di Aggiornamento della SIN. Editrice Pisani, 1996:200205
95) DOTTI MT, FEDERICO A.
Terapia della xantomatosi cerebrotendinea
Neurologia 1996. Corso di Aggiornamento della SIN. Editrice Pisani, 1996:294301
96) DE STEFANO N, DOTTI MT, VILLANOVA M, SCARANO G, FEDERICO A.
Merosin positive congenital muscular dystrophy with severe involvement of the
central nervous system
Brain & Development 1996,18:323-326 (IF 0.859)
97) FEDERICO A, PLEWNIA K, BATTISTI C, CAVALLARO T, DOTTI MT,
MALANDRINI A, MANNESCHI L.
Palpebral ptosis and muscle fatiguability associated with perineurial cell
ensheathment of muscle fibers: a new disease of the neuromuscular junction?
Journal of Neurological Sciences 1997,149:147-150 (IF 2.080)
98) MALANDRINI A, DOTTI MT, FEDERICO A.
Selective ipsilateral neuromuscular involvement in a case of facial and somatic
hemiatrophy
Muscle and Nerve 1997,20:890-892 (IF 2.450)
99) PLEWNIA K, DOTTI MT, MALANDRINI A, MANNESCHI L, BATTISTI C, DE
STEFANO N, RUFA A, MOTOLESE E, FEDERICO A.
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical,
biochemical and morphologic study of one case
Journal of Submicroscopic Cytology and Pathology 1997, 29:335-338
100)GARUTI R, CROCE MA, TIOZZO R, DOTTI MT, FEDERICO A, BERTOLINI S,
CALANDRA S.
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with
cerebrotendinous xanthomatosis
Journal of Lipid Research 1997,38:2322-2334 (IF 3.730)
101) BATTISTI C, DOTTI MT, VERRI MP, FEDERICO A.
Distonia nella sindrome 18P: descrizione di due casi ed implicazioni
patogenetiche
Atti XXIV Riunione LIMPE,"Indicatori storia naturale terapie delle malattie
extrapiramidali", Perugia,1997:398-401
102) PAOLINI B, PARROTTA E, SICURELLI F, FORMICHI P, BATTISTI C, CIACCI
G, DOTTI MT, MATTEI R, FEDERICO A.
Terapia dietetica nella malattia di Parkinson
Atti XXIV Riunione LIMPE, Perugia 1997:447-454
103) BATTISTI C, DOTTI MT, MALANDRINI A, PEZZELLA F, BARDELLI AM,
FEDERICO A.
Schnyder corneal crystalline dystrophy: description of a new family with
evidence of abnormal lipid storage in skin fibroblasts
American Journal of Medical Genetics 1998;75:35-39 (IF 2.334)
104) FORMICHI P, BATTISTI C, DOTTI MT, HAYEK G, ZAPPELLA M, FEDERICO
A.
Vitamin E serum levels in Rett syndrome
Journal of Neurological Sciences 1998, 156:227-230 (IF 2.080)
105) DOTTI MT, PLEWNIA K, CARDAIOLI E, MANNESCHI L, RUFA A, ALEMA'
G, FEDERICO A
A case of ethambutol-induced optic neuropathy harbouring the primary
mitochondrial LHON mutation at nt 11778
Journal of Neurology 1998,245:302-303 (IF 3.345)
106) DOTTI MT, MONDILLO S, PLEWNIA K, AGRICOLA E, FEDERICO A.
Cerebrotendinous xanthomatosis:evidence of lipomatous hypertrophy of the
atrial septum
Journal of Neurology 1998,245:723-726 (IF 3.345)
107) FEDERICO A, DOTTI MT, CARDAIOLI E, GRIECO G, MALANDRINI A,
MANNESCHI L, PLEWNIA K, RUFA A, RENIERI A, BRUTTINI M, PERTICONI GF
Association in the same patient of autosomal dominant progressive external
ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis:
clinical, biochemical,histological, submicroscopic and molecular genetic study
Journal of Submicroscopic Cytology and Pathology 1998,30 (4):521-526
108) BATTISTI C, DALLA TOFFOLA E, VERRI AP, DOTTI MT, FORMICHI P,
FEDERICO A.
Clinical and stabilometric monitoring in a case of cerebellar atrophy with
vitamin E deficiency
Brain & Development 1998,20:253-257 (IF 0.859)
109) MALANDRINI A, DOTTI MT, BATTISTI C, VILLANOVA M, CAPOCCHI G,
FEDERICO A
Giant axonal neuropathy with subclinical involvement of the central nervous
system: case report
Journal of Neurological Sciences 1998, 158:232-235 (IF 2.080)
110) ORRICO A, GALLI L, DOTTI MT, PLEWNIA K, CENSINI S, FEDERICO A.
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new
case
American Journal of Medical Genetics 1998,78:341-344 (IF 2.334)
111) MALANDRINI A, VILLANOVA M, DOTTI MT, FEDERICO A.
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease
Neurology 1999,52:869-861 (IF 5.340)
112) CASALI C, FABRIZI GM, SANTORELLI FM, COLAZZA G, VILLANOVA M,
DOTTI MT, CAVALLARO T, CARDAIOLI E, BATTISTI C, MANNESCHI L, DI
GENNARO GC, FORTINI D, SPADARO M, MOROCUTTI C, FEDERICO A.
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in
an Italian family
Neurology 1999,52:1103-1104 (IF 5.340)
113) DOTTI MT, DE STEFANO N, AGRICOLA E, MONDILLO S, FEDERICO A.
Neurological involvement and quadricuspid aortic valve in a patient with
Ehlers-Danlos syndrome
Journal of Neurology 1999,246:612-613 (IF 3.345)
114) VILLANOVA M, CUETERICK C, DOTTI MT, SANTORELLI, CASALI C,
MALANDRINI A, DE STEFANO N, LUBKE U, MARTIN JJ, GUAZZI GC, FEDERICO
A.
Detection of beta-A4amyloid and its precursor protein in the muscle of a
patient with juvenile neuronal ceroid-lipofuscinosis (Spielmeyer-Vogt-Sjogren)
Acta Neuropathologica 1999,98:78-84 (IF 2.283)
115) CARDAIOLI E, DOTTI MT, HAYEK G, ZAPPELLA M, FEDERICO A.
Sudies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data
from skin and muscle biopsy and mitochondrial analysis at mt DNA nucleotides
10463 and 2835
Journal of Sumicroscopic Cytology and Pathology 1999,31 (2):301-304
116) BATTISTI C, LOUDIANOS G, RUFA A, DOTTI MT, SANGIORGI S, DESSI’
V, LOVICU M, PIRASTU M, FEDERICO A.
Detection of a rare Wilson disease mutation associated with arylsulfatase A
pseudodeficiency
American Journal of Medical Genetics 1999,85:175-178 (IF 2.334)
117) FEDERICO A, TOMASETTI P, ZOLLINO M, DIOMEDI M, DOTTI MT, DE
STEFANO N, GUALDI GF, NERI G, FEDERICO A.
Association of trisomy 9p and band heterotopia
Neurology 1999, 53:430-432 (IF 5.340)
118) MACUCCI M, DOTTI MT, FEDERICO A.
Eredo atassie
In: BERGONZI P, MASSARO AR (Eds), Trattato Italiano di Neurologia, Verduci
Editore, Roma 1998, vol.3, cap.116
119) MACUCCI M, DOTTI MT, FEDERICO A.
Atrofie cerebellari progressive
In: BERGONZI P, MASSARO AR (Eds), Trattato Italiano di Neurologia, Verduci
Editore, Roma 1998, vol.3, cap. 117
120) FEDERICO A, DE STEFANO N, DOTTI MT.
Leucoencefalopatie genetiche
In: BERGONZI P, MASSARO AR (Eds), Trattato Italiano di Neurologia, Verduci
Editore, Roma 1998, vol.3, cap. 144
121) DE STEFANO N, DOTTI MT, MORTILLA M, PAPPAGALLO E, LUZI P, RAFI
MA, FORMICHI P, INZITARI D, WENGER D, FEDERICO A.
Evidence of diffuse brain pathology and unspecific genetic characterization in a
patient with adult-onset Krabbe disease
Journal of Neurology, 2000, 247:226-28 (IF 3.345)
122) DOTTI MT, GARUTI R, CALANDRA S, FEDERICO A.
CTX with prevalent parkinsonian syndrome: further confirmation of the clinical
heterogeneity
Movement Disorders 2000,15:1017-1019 (IF 2.895)
123) DE STEFANO N, NARAYANAN S, MATTHEWS P, MORTILLA M, DOTTI MT,
FEDERICO A, ARNOLD DL
Proton MR Spectroscopy to assess axonal damage in multiple sclerosis and
other white matter disorders.
Journal of Neurovirology, 2000,6 (suppl. 2):S121-129 (IF 2.070)
124) MALANDRINI A, DOTTI MT, BATTISTI C, VILLANOVA M, FEDERICO A.
Neurological involvement in Werner's syndrome: clinical and biopsy study of a
familial case
European Neurology, 2000,44:187-189 (IF 1.104)
126) ORRICO A, LAM CW, GALLI L, DOTTI MT, HAYEK G, TONG SF, POOM
PMK, ZAPPELLA M, FEDERICO A, SORRENTINO V
MECP2 mutation in male patients with non-specific X-linked mental retardation
FEBS Letters, 2000, 481:285-288 (IF 3.912)
127) DE STEFANO N, DOTTI MT, MORTILLA M, DAL POZZO GC, FEDERICO A.
Magnetic resonance imaging and spectroscopic changes in brain of patients
with cerebrotendinous xanthomatosis
Brain, 2001,124(Pt1): 121-131 (IF 7.122)
128) CARDAIOLI E, FABRIZI GM, GRIECO SG, DOTTI MT, FEDERICO A
Heteroplasmy of the A3243G transition of mitochondrial tRNALeu(UUR) in a
MELAS case and in a 25-week-old miscarried fetus
Journal of Neurology 2000,415:885-887 (IF 3.345)
129) RUFA A, FEDERICO A, DOTTI MT
Patologia della lente nelle malattie neurogenetiche
Bollettino di oculistica 1999,suppl 3: 195-202
130) DI RENZO M, LAGHI PASINI F, MT DOTTI, FORMICHI P, ANNUNZIATA
P, PASQUI AL, POMPELLA G, AUTERI A, FEDERICO A
Cytokine production from perypheral monuclear cells in 2 patients affected by
adrenomyeloneuropathy
European Neurology, 2001,45:192-193 (IF 1.104)
131) DOTTI MT, FEDERICO A
Ritardo mentale: linee guida per una diagnosi patogenetica
Neurological Sciences 2000, 21:S293-298
132) FEDERICO A, DE STEFANO N, BATTISTI C, RUFA A, SICURELLI F, DOTTI
MT
Leucoencefalopatie genetiche a patogenesi metabolica ignota
Neurological Sciences 2000, 21:S561-565
133) FEDERICO A, BATTISTI C, BIANCHI S, CARDAIOLI E, DA POZZO P,
FORMICHI P, DOTTI MT
Interazione genotipo-fenotipo nella variabilità delle malattie neurogenetiche
Neurological Sciences 2000,21:S599-605
134) GINANNESCHI F, MONDELLI M, MALANDRINI A, DOTTI MT, FEDERICO A
Miopatia nemalinica: descrizione di un caso ad esordio in età adulta
Rivista di Neurobiologia 2000, 46:301-305
135) DE STEFANO N, BALESTRI P, GROSSO S, DOTTI MT, MORTILLA M,
MORGESE G, FEDERICO A
Severe metabolic abnormalities in the white matter of patients with
megalencephalic cystic leukoencephalopathy with subcortical cysts. A proton
MR spectroscopic imaging study
Journal of Neurology, 2001,248:403-409 (IF 3.345)
136) DANEK A, RUBIO JP, RAMPOLDI L, HO M, DOBSON-STONE C, TISON F,
SYMMANS WA, OECHSNER M, KALCKREUTH W, WATT JM, CORBETT AJ,
HAMDALLA HH, MARSHALL AG, SUTTON I, DOTTI MT, MALANDRINI A,
WALKER RH, DANIELS G, MONACO AP
McLeod neuroachanthocytosis: genotype and phenotype
Annals of Neurology 2001,50:755-764 (IF 8.603)
137 ) MONDELLI M, SICURELLI F, SCARPINI C, DOTTI MT, FEDERICO A
Cerebrotendinous xanthomatosis: 11 year treatment with chenodeoxycholic
acid in five patients. An electrophysiological study
Journal of the Neurological Sciences, 2001,190:29-33 (IF 2.080)
138) FEDERICO A, DOTTI MT
Cerebrotendinous xanthomatosis
Neurology 2001,57:1743 (letter) (IF 5.340)
139) DOTTI MT, RUFA A, FEDERICO A
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with
evidence of previously undescribed ophthalmological findings
Journal of Inherited Metabolic Disease 2001,24:696-706 (IF 1.623)
140) FEDERICO A, RUFA A, BATTISTI C, BIANCHI S, CARDAIOLI E, DA POZZO
P, DE STEFANO N, FORMICHI P, SICURELLI F, DOTTI MT
Genetic leukoencephalopaties with unknown metabolic pathogenesis
Neurological Sciences 2001,22:S108-S112 (IF 0.907)
141) CORONA P, LAMANTEA E, GRECO M, AGOSTINO A, GUIDETTI D, DOTTI
MT, MARIOTTI C, ZEVIANI M
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical
presentations
Annals of Neurology 2002,51:118-122 (IF 8.603)
142) DOTTI MT, ORRICO A, DE STEFANO N, BATTISTI C, SICURELLI F,
SEVERI S, LAM CW, GALLI L, SORRENTINO V, FEDERICO A.
A Rett syndrome MECP2 mutation that causes mental retardation in men.
Neurology 2002,58:226-230 (IF 5.340)
143) RUFA A, DOTTI MT, GALLI L, ORRICO A, SICURELLI F, FEDERICO A
Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary
degeneration.
European Neurology 2002;47:128-9 (IF 1.104)
144) GINANNESCHI F, MONDELLI M, MALANDRINI A, GAMBELLI S, DOTTI MT,
FEDERICO A
Nemaline myopathy: description of an adult onset case
Journal of Submicroscopic Cytology and Pathology 2002,34:119-122
145) FEDERICO A, DOTTI MT
The Siena experience on rare neurological disease: diagnosis, therapy and
research model for investigations of central and perypheral nervous systems
and muscle
Functional Neurology 2001,16 (suppl.): 263-270 (IF 0.409)
146) FEDERICO A, DOTTI MT
Le malattie neurologiche rare: aspetti organizzativi per la diagnosi e terapia
In: Qualità, accreditamento e gestione delle unità operative in neurologia.
Bonavita V, Federico A, Provinciali L, Toso V (eds), Centro Scientifico Editore,
Torino 2000:65-74
147) DOTTI MT, BIANCHI S, FEDERICO A
CADASIL: aspetti clinico-diagnostici
Neurological Sciences 2002, suppl vol 23:S561-S564
148) BATTISTI C, DOTT MT, CERASE A, RUFA A, SICURELLI F, SCARPINI C,
FEDERICO A
The Primrose syndrome with progresive neurological involvement and cerebral
calcification
Journal of Neurology, 2002,249:1466-1468 (IF 3.345)
149) DOBSON-STONES C, DANEK A, RAMPOLDI L, HARDIE RJ, CHALMERS RM,
WOOD NW, BOHLEGA S, DOTTI MT, FEDERICO A, SHIZUKA M, TANAKA M,
WATANABE M, IKEDA Y, BRIN M, GOLDFARB LG, KARP BI, MOHIDDIN S,
FANANAPAZIR L, STORCH A, FRYER AE, MADDISON P, SIBON I, TREVISOLBITTENCOURT PC, SINGER C, CABALLERO IR, AASLY JO, SCHMIERER K,
DENGLER R, HIERSEMENZEL LP, ZEVIANI M, MEINER V, LOSSOS A, JOHNSON
S, MERCADO FC, SORRENTINO G, DUPRE N, ROULEAU GA, VOLKMANN J, ARPA
J, LEES A, GERAUD G, CHOUINARD S, NEMETH A, MONACO AP.
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
European Journal Human Genetics 2002, 10:773-781 (IF 3.136)
150) INGLESE M, DE STEFANO N, PAGANI E, DOTTI MT, COMI G, FEDERICO
A, FILIPPI M.
Quantification of brain damage in cerebrotendinous xanthomatosis with
magnetization transfer MR imaging
American Journal of Neuroradiology 2003, 24:495-500 (IF 2,463)
151) TESSA A, SALVI S, CASALI C, GARAVELLI L, DIGILIO MC, DOTTI MT,
GIANDOMENICO SD, VALOPPI M, GRIECO GS, COMANDUCCI G, BIANCHINI G,
FORTINI D, FEDERICO A, GIANNOTTI A, SANTORELLI FM.
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial
dysplasia.
Human Mutation 2003,22:104 (IF 6.897)
152) BATTISTI C, BONAGLIA MC, GIGLIO C, ANICHINI C, PUCCI L, DOTTI
MT, ZUFFARDI O, FEDERICO A.
De novo double translocation 3;13 and 4;8;18 in a patient with mental
retardation and skeletal abnormalities
American Journal Medical Genetics 2003,117A:207-211 (IF 2.334)
153) RUFA A, DOTTI MT, ORRICO A, BATTISTI C, CARLETTO F, FEDERICO A
Retinochoroidal atrophy in two adult patients with Angelman syndrome
America Journal Medical Genetics 2003,122A:155-158 (IF 2.334)
154) FEDERICO A, DOTTI MT
Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria,
pathogenesis, and therapy
Journal of Child Neurology 2003,18:633-638 (IF 1,338)
155) DE STEFANO N, DOTTI MT, BATTISTI C, SICURELLI F, STROMILLO ML,
MORTILLA M, FEDERICO A.
MR evidence of structural and metabolic changes in brains of patients with
Werner’s syndrome
Journal of Neurology 2003,250:1169-1173 (IF 3,345)
156) BATTISTI C, TARUGI P, DOTTI MT, DE STEFANO N, VATTIMO A,
CALANDRA S, FEDERICO A.
Adult onset Niemann-Pick type C disease: a clinical, neuroimaging and
molecular genetic study
Movement Disorders, 2003,18:1405-1409 (IF 2.895)
157) BRUNO C, BERTINI E, FEDERICO A, TONOLI E, LISPI ML, CASSANDRINI
D, PEDEMONTE M, SANTORELLI FM, FILOCAMO M, DOTTI MT, SCHENONE A,
MALANDRINI A, MINETTI C
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)
Neurology, 2004,62 (1);13-16 (IF 5.340)
158) BATTISTI C, DOTTI MT, LOUDIANOS G, G, DESSI V, BATTISTINI S,
AMATO T, RUFA A, FEDERICO A.
Wilson disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency:
just a coincidence?
Neurological Sciences 2004, 25 (1): 18-20 (IF 0.907)
159) RUFA A, DE STEFANO N, DOTTI MT, BIANCHI S, SICURELLI F,
STROMILLO L, D’ANIELLO B, FEDERICO A
Acute unilateral visual loss as first symptom of cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy.
Archives of Neurology, 2004, 61:577-580 (IF 4,336)
160) DOTTI MT, DE STEFANO N, BIANCHI S, MALANDRINI A, BATTISTI C,
CARDAIOLI E, FEDERICO A
A novel Notch3 frame shift deletion and mitochondrial bnormalities in a patient
with CADASIL
Archives of Neurology, 2004,61:942-945 (IF 4.336)
161) NICHOLL DJ, SUTTON I, DOTTI MT, SUPPLE SG, DANEK A, LAWDEN M
White matter abnormalities on MRI in neuroacanthocytosis
Journal Neurology, Neursurgery and Psychiatry, 2004,75:1200-1207 (IF 2.939)
162) DOBSON-STONE C, VELAYOS-BAEZA A, FILIPPONE LA, WESTBURY S,
STORCH A, ERDMANN T0, WROE SJ, LEENDERS KL, LANG AE, DOTTI MT,
FEDERICO A, MOHIDDIN S, FANANAPAZIR L, DANIELS G, DANEK A,
MONACO AP
Chorein detection for the diagnosis of chorea-acanthocytosis
Annals of Neurology, 2004,56:299-302 (8.603)
163) GAMBELLI S, DOTTI MT, MALANDRINI A, MONDELLI M, STROMILLO ML,
GAUDIANO C, FEDERICO A.
Mitochondrial alterations in muscle biopsies of patients on statin therapy
J Submicrosc Cytol Pathol 2004,36 (1): 85-89
164) RUFA A, DOTTI MT, FREZZOTTI P, DE STEFANO N, CAPOROSSI A,
FEDERICO A
Hemodynamic evaluation of the optic nerve head in cerebral autosomal
dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Archives of Neurology, 2004,61 (8):1230-1233 (IF 4.336)
165) PANTONI L, SARTI C, PESCINI F, BIANCHI S, BARTOLINI L, NENCINI P,
BASILE AM, LAMASSA M, KALARIA RN, DOTTI MT, FEDERICO A, INZITARI D
Thrombophilic risk factors and unusual clinical features in three Italian
CADASIL patients
European Journal of Neurology 2004, 11 (11):782-7 (IF 2,225)
166) VALENTINO ML, P BARBONI, A GHELLI, L BUCCHI, C RENGO, A
ACHILLI, A TORRONI, A LUGARESI, R LODI, B BARBIROLI, DOTTI MT,
FEDERICO A, BARUZZI A, CARELLI V
A novel LHON mutation 3733G>A (E143K) of mtDNA reveals that ND1 gene of
complex I is an additional mutational hot spot.
Annals of Neurology, 2004, 56:631-641 (IF 8.603)
167 )DOTTI MT, LÜTJOHANN D, von BERGMANN K, FEDERICO A
Normalization of serum cholestanol concentration in a patient with
cerebrotendinous xanthomatosis by combined treatment with
chenodeoxycholic acid, simvastatin, and ldh-apheresis
Neurological Sciences, 2004,25:185-191 (IF 1,59)
168) CARDAIOLI E, DA POZZO P, RADI E, DOTTI MT, FEDERICO A
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with
chronic progressive external ophthalmoplegia
Biochemical Biophysical Research Communications 2004,327:675-678 (IF
3,055)
169) DOTTI MT, GUIDERI F, ACAMPA M, ORRICO A, BATTISTI C, FEDERICO A
Autonomic dysfunction in mental retardation and spastic paraparesis with
MECP2 mutation
Journal of Child Neurology, 2004,19:964-966 (IF 1,338)
170) RUFA A, DOTTI MT, CARDAIOLI E, DA POZZO P, FEDERICO A
Leber Hereditary Optic Neuropathy in 2 of 4 Siblings with 11778 mtDNA
Mutation: Clinical Variability or Effect of Toxic Environmental Exposure?
European Neurology, 2005,10:32-34 (IF 1,104)
171) CLARENBACH JJ, LINDENTHAL B, DOTTI MT, FEDERICO A, KELLEHER J,
VON BERGMANN K
Isotopomer spectral anlysis of intermediates of cholesterol synthesis in
patients with cerebrotendinous xanthomatosis
Metabolism, 2005,54:335-344 (IF 1,952)
172) DOTTI MT, FEDERICO A, MAZZEI R, BIANCHI S, SCALI O, CONFORTI FL,
SPROVIERI T, GUIDETTI D, AGUGLIA U, CONSOLI D, PANTONI L, SARTI C,
INZITARI D, QUATTRONE A
The spectrum of Notch3 mutations in 28 Italian CADASIL families
Journal of Neurology Neurosurgery and Psychiatry 2005,76(5):763-8 (IF
2,939)
173) SICURELLI F, DOTTI MT, DE STEFANO N, MALANDRINI A, MONDELLI,
BIANCHI S, FEDERICO A
Peripheral neuropathy in CADASIL
Journal of Neurology 2005, (IF 3,345)
174) FINESCH V, PANARESE F, ZEPPA P, RIEZZO I, RICCI P, DOTTI MT,
FEDERICO A
Sudden cardiac death in a case of spinocerebellar ataxia (Freidreich-like
phenotype)
International Journal of Cardiology 2006, 106 (3):424-425 (IF 2,095)
175) PANTONI L, PESCINI F, INZITARI D, DOTTI MT
Postpartum psychiatric disturbances as an unrecognized onset of CADASIL
Acta Psychiatrica Scandinavica 2005,112:241-2 (letter) (IF 2,288)
176) PALMERI S, TARUGI P, SICURELLI F, BUCCOLIERO R, MALANDRINI A, DE
SANTIS MM, MARCIANO G, BATTISTI C, DOTTI MT, CALANDRA S, FEDERICO
A
Lung involvement in Niemann-Pick disease type C1: improvement with
bronchoalveolar lavage
Neurological Sciences 2005, 26(3):171-3 (IF 1,59)
177) FEDERICO A, BIANCHI S, DOTTI MT
The spectrum of mutations for CADASIL diagnosis.
Neurological Sciences 2005,26(2):117-124 (IF 1,59)
178) MALANDRINI A, GAMBELLI S, MUGLIA M; BERTI G, PATITUCCI A, SUGIE
K, UMEHARA F, QUATTRONE A, DOTTI MT, FEDERICO A
Motor-sensory neuropathy with minifascicle formation in a woman with normal
karyotype
Neurology 2005,65(5):776(IF 5,973)
179) RUFA A, MALANDRINI A, DOTTI MT, BERTI G, SALVADORI C, FEDERICO
A
Typical pathological changes of CADASIL in the optic nerve.
Neurological Sciences 2005, 26(4):271-274 (IF 1,59)
180) RUFA A, DOTTI MT, FRANCHI M, STROMILLO ML, CEVENINI G, BIANCHI
S, DE STEFANO N, FEDERICO A
Systemic Blood Pressure Profile in Cerebral Autosomal Dominant
Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
Stroke 2005, 36(12):2554-8 (IF 5, 748)
181) BIANCHI S, DOTTI MT, FEDERICO A
Physiology and pathology of notch signalling system
J Cell Physiol 2005 Nov 3
(IF 5,222)
182) CARDAIOLI E, GALLUS GN, DA POZZO P, RUFA A, FRANCESCHINI R,
MOTOLESE E, CAPOROSSI A, DOTTI MT, FEDERICO A
A novel mutation producing premature termination codon at the OPA1 gene
causes autosomal dominant optic atrophy
Journal of Neurology 2005 Dec 12 (IF 2,366)
183) DOTTI MT, MALANDRINI A, GAMBELLI S, SALVADORI C, DE STEFANO N,
FEDERICO
A new missense mutation in caveolin-3 gene causes rippling muscle disease
Journal Neurological Sciences 2006,243 (1-2):61-64 (IF 2,366)
184) PELLEGRINI M, ZICARI E, DOTTI MT, FEDERICO A
Dysautonomic achalasia in two siblings with Sandhoff Disease
Journal of Neurological Sciences, 2006, 241:107-109 (IF 2,366)
185) GIORGIO A, DOTTI MT, BATTAGLINI M, MARINO S, MORTILLA M,
STROMILLO ML, BRAMANTI P, ORRICO A, FEDERICO A, DE STEFANO N
Cortical damage in brains of patients with adult-form myotonic dystrophy type
1 and no or minimal MRI abnormalities
Journal of Neurology, 2006 (IF 3,345)
186) CARDAIOLI E, DA POZZO P, CERASE A, SICURELLI F, MALANDRINI A, DE
STEFANO N, STROMILLO ML, BATTISTI C, DOTTI MT, FEDERICO A.
Rapidly progressive neurodegeneration in a case with the 7472insC mutation
and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.
Neuromuscul Disorders 2006, 16 (1):26-31 (IF 2,718)
187) FEDERICO A, DOTTI MT, GALLUS GN (updated February 2006)
Cerebrotentinous Xanthomatosis in: GeneReviews at GeneTests: Medical
Genetics Information Resource [database online]. Copyright, University of
Washington, Seattle. 1997-2006. Available at http://www.genetests.org.
188) FORLI F, MANCUSO M, SANTORO A, DOTTI MT, SICILIANO G,
BERRETTINI S.
Auditory neuropathy in a patient with mitochondrial myopathy and multiple
mtDNA deletions.
J Laryngol Otol. 2006, 24:1-4 (IF 0,547)
189) STEVANIN G, MONTAGNA G, AZZEDINE H, VALENTE EM, DURR A,
SCARANO V, BOUSLAM N, CASSANDRINI D, DENORA PS, CRISCUOLO C,
BELARBI S, ORLACCHIO A, JONVEAUX P, SILVESTRI G, HERNANDEZ AM, DE
MICHELE G, TAZIR M, MARIOTTI C, BROCKMANN K, MALANDRINI A, VAN DER
KNAAP MS, NERI M, TONEKABONI H, MELONE MA, TESSA A, DOTTI MT,
TOSETTI M, PAURI F, FEDERICO A, CASALI C, CRUZ VT, LOUREIRO JL, ZARA F,
FORLANI S, BERTINI E, COUTINHO P, FILLA A, BRICE A, SANTORELLI FM
Spastic paraplegia with thin corpus callosum: description of 20 new families,
refinement of the SPG11 locus, candidate gene analysis and evidence of
genetic heterogeneity.
Neurogenetic 2006; 7 (3): 149-156 (IF 3,115)
190) FEDERICO A, SCALI O, STROMILLO ML, DI PERRI C, BIANCHI S, DE
STEFANO N, MALANDRINI A, DOTTI MT
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5
mutation.
Neurology. 2006 Jul 25;67(2):353-50 (IF 5,973)
191) GUIDETTI D, CASALI B, MAZZEI RL, DOTTI MT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy.
Clin Exp Hypertens 2006;28(3-4):271-7 (0.999)
192) GALLUS GN, DOTTI MT, FEDERICO A
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a
review of the mutations in the CYP27A1 gene.
Neurological Sciences. 2006; 27(2):143-9 (IF 1,59)
193) GAMBELLI S, DOTTI MT, MALANDRINI A, BERTI G, SERNI G, FEDERICO
A
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy,
Mental Retardation and Abnormal Pupils.
European Neurology 2006 Oct 11;56(3):172-174 (IF 1,104)
194) RUFA A, ZICARI E, CERASE A, VALLONEIM, DOTTI MT, FEDERICO A
Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis.
Neurology 2006;67(12):2169 (IF 5,973)
195) RUFA A, GUIDERI F, ACAMPA M, CEVENINI G, STROMILLO ML, DE
STEFANO N, FEDERICO A, DOTTI MT
Cardiac autonomic nervous system and risk of arrhythmias in cerebral
autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL).
Stroke 2007; 38:276-280 (IF 5,748)
196) GAMBELLI S, MALANDRINI A, BERTI G, GAUDIANO C, ZICARI E,
BRUNORI P, PERTICONI G, ORRICO A, GALLI L, SORRENTINO V, LUNARDI J,
FEDERICO A, DOTTI MT
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type
1.
Clinical Genetics 2007;71(1):93-4 (IF 2,367)
197) PETRUZZELLA V, TESSA A, TORRACOA, FATTORI F, DOTTI MT, BRUNO
C, CARDAIOLI E, PAPA S, FEDERICO A, SANTORELLI FM
The NDUFB11 gene is not a modifier in Leber hereditary optic
neuropathy
Biochem Bioph Res Commun, 2007 (IF 2,904)
198) CARDAIOLI E, DA POZZO P, GALLUS GN, FRANCESCHINI R, RUFA A,
DOTTI MT, CAPOROSSI A, FEDERICO A.
Leber's Hereditary Optic Neuropathy associated with cocaine, ecstasy and
telithromycin consumption
J Neurology 2007,254 (2):255-6 (IF 2,366)
199) MALANDRINI A, GAUDIANO C, GAMBELLI S, BERTI G, SERNI G, BIANCHI
S, FEDERICO A, DOTTI MT
Diagnostic value of ultrastructural skin biopsy studies
in CADASIL
Neurology, 2007, 68 (17):1430-2 (IF 5,973)
200) GINESTRONI A, GUERRINI L, NAVE RD, TESSA C, CELLINI E, DOTTI MT,
BRUNORI P, DE STEFANO N, PIACENTINI S, MASCALCHI M.
Morphometry and 1H-MR Spectroscopy of the Brain Stem and Cerebellum in
Three Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
AJNR American Journal Neuroradiology 2007 Mar;28(3):486-8 (2,406)
201) MARINO S, DE LUCA M, DOTTI MT, STROMILLO ML, FORMICHI P,
GALLUZZI P, MONDELLI M, BRAMANTI P, FEDERICO A, DE STEFANO N
Prominent Brain Axonal Damage and Functional Reorganization in
"Pure" Adrenomyeloneuropathy
Neurology, 2007 Sep 18;69(12):1261-9 (IF 5,973)
202) BUCCOLIERO R, PALMERI S, MALANDRINI A, DOTTI MT, FEDERICO A
A case of dystonia with onset during pregnancy
Journal of Neurological Sciences, in press (IF 2,366)
203) BUCCOLIERO R, PALMERI S, MALANDRINI A, DOTTI MT, FEDERICO A.
A case of dystonia with onset during pregnancy.
Journal of Neurological Sciences 2007 May 15 (IF 2.366)
204) SZLAGO M, GALLUS GN, SCHENONE A, PATINO ME,
SFAELO Z, RUFA A, DA POZZO P, CARDAIOLI E, DOTTI MT, FEDERICOA
The first cerebrotendinous xanthomatosis family from Argentina: a new
mutation in CYP27A1 gene
Neurology, 2008;70 402-404 (IF 5,973)
205) PESCINI F, BIANCHI S, DOTTI MT, FEDERICO A, INZITARI D, PANTONI L
First report of a Romanian CADASIL patient following immigration to Italy.
Eur J Neurol. 2007 14(8):7-8 (IF 2,225).
206) MALANDRINI A, GAMBELLI S, MUGLIA M, BERTI G, GAUDIANO C,
PATITUCCI A, SUGIE K, UMEHARA F, QUATTRONE A, DOTTI MT, FEDERICO A
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal
dysgenesis.
Brain Dev 2007 (IF 1,382)
207) PESCINI F, BIANCHI S, SALVADORI E, POGGESI A, DOTTI MT,
FEDERICO A, INZITARI D, PANTONI L
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an
octogenarian paucisymptomatic patient
J Neurol Sci, 2007 (IF 2.366)
208 ) SCAGLIONE C, GINESTRONI A, VELLA A, DOTTI MT, NAVE RD, RIZZO
G, DE CRISTOFARO MT, DE STEFANO N, PIACENTINI S, MARTINELLI P,
MASCALCHI M.
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated
tremor/ataxia syndrome.
J Neurology 2007 (IF 2,366)
209) BATTISTI C, FORTE F, MOLINELLI M, FUNGHINI S, PASQUINI E,
TASSINIM, DOTTI MT, FEDERICO A
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical,
biochemical, genetic and (1)H-NMR spectroscopic studies.
Neurol Sci. 2007;28(6):328-30 (IF 1.59)
210) DELLA NAVE R, GINESTRONI A, GIANNELLI M. TESSA C, SALVATORE E,
SALVI F, DOTTI MT, DE MICHELE G, PIACENTINI S, MASCALCHI M
Brain structural damage in Fredreich ataxia.
J Neurol Neurosurg Psychiatry 2008 Jan;79(1):82-5 (IF 2,939)
211) ZICARI E, TASSI R, STROMILLO ML, PELLEGRINI M, BIANCHI S,
CEVENINI G, GISTRI M, DE STEFANO N, FEDERICO A, DOTTI MT
Right-lo-left shunt in CADASIL patients: prevalence and correlation with clinical
and MRI findings
Stroke, 2008 (IF 5,748)
212) DELLA NAVE R, GINESTRONI A, TESSA C, SALVATORE E, BARTOLOMEI I,
SALVI F, DOTTI MT, DE MICHELE G, PIACENTINI S, MASCALCHI M.
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI
study using tract-based spatial statistics and voxel-based morphometry.
Neuroimage 2007 Dec 14 (IF 5.559)
213) BIANCHI S, DOTTI MT, DE STEFANO N, STROMILLO ML, FEDERICO A.
Novel human pathological mutations. Gene symbol: NOTCH3. Disease:
CADASIL, exon 2 mutation.
Hum Genet. 2007 Dec;122(5):558-9
214) BIANCHI S, DOTTI MT, PERRETTI A, DE ROSA A, MANGANELLI F,
FEDERICO A.
Novel human pathological mutations. Gene symbol: NOTCH3. Disease:
CADASIL.
Hum Genet. 2007 Dec;122(5):558.
215) DELLA NAVE R,GINESTRONI A, TESSA C, COSOTTINI M, GIANNELLI M,
SALVATORE E, SARTUCCI F, DE MICHELE G, DOTTI MT, PIACENTINI S,
MASCALCHI M
Brain Structural damage in spinocerebellar ataxia type 2. a voxel-based
morphometry study
Movement Disorders, in press (IF 3,323)
216) TESSA A, SILVESTRI G, DE LEVA MF, MODONI A, DENORA PS,
MASCIULLO M, DOTTI MT, CASALI C, MELONE MA, FEDERICO A, FILLA A,
SANTORELLI FM.
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal
neuropathy.
J Neurology 2008 (IF 2,366)
217) RUFA A, CERASE A, MONTI L, BATTISTI C, FORTE F, FEDERICO A, DOTTI
MT.
Acute vestibular syndrome in a patient with cerebral autosomal dominant
leukoencephalopathy with subcortical infarcts and leukoencephalopathy
(CADASIL).
J Neurol Sci. 2008 Jun 5 (IF 2.366)
218) DELLA NAVE R, GINESTRONI A, TESSA C, SALVATORE E, DE GRANDIS
D, PLASMATI R, SALVI F, DE MICHELE G, DOTTI MT, PIACENTINI S
Brain white matter damage in SCA1 and SCA2. An in vivo study using voxelbased morphometry, histogram analysis of mean diffusivity and tract-based
spatial statistics.
NeuroImage 2008 (IF 4,869)
219) CARDAIOLI E, DA POZZO P, MALFATTI E, GALLUS GN, RUBEGNI A,
MALANDRINI A, GAUDIANO C, GUIDI L, SERNI G, BERTI G, DOTTI MT,
FEDERICO A.
Chronic progressive external ophthalmoplegia: A new heteroplasmic
tRNA(Leu(CUN)) mutation of mitochondrial DNA.
Journal Neurological Sciences 2008 Jul 4. (IF 2.366)
220) FORMICHI P, PARNETTI L, RADI E, CEVENINI G, DOTTI MT, FEDERICO
A.
CSF levels of beta-amyloid 1-42, tau and phosphorylated tau protein in
CADASIL.
Eur J Neurol. 2008 Sep 18 (IF 2,225).
221) PICCIRILLO G, MAGRÌ D, MITRA M, RUFA A, ZICARI E, STROMILLO ML,
DE STEFANO N, DOTTI MT.
Increased QT variability in cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy.
Eur J Neurol. 2008 Sep 18. (IF 2,225).
222) MALANDRINI A, ORRICO A, GAUDIANO C, GAMBELLI S, GALLI L, BERTI
G, TEGAZZIN V, DOTTI MT, FEDERICO A, SORRENTINO V.
Muscle biopsy and in vitro contracture test in subjects with idiopathic
HyperCKemia.
Anesthesiology. 2008 Oct;109(4):625-8 (IF 4,055)
223) STROMILLO ML, DOTTI MT, BATTAGLINI M, MORTILLA M, BIANCHI S,
PLEWNIA K, PANTONI L, INZITARI D, FEDERICO A, DE STEFANO N.
Structural and Metabolic Brain Abnormalities in Preclinical CADASIL.
J Neurol Neurosurg Psychiatry. 2008 Oct 1 (IF 3,110)
224) BUONI S, ZANNOLLI R, FELICE CD, SAPONARI S, STRAMBI M, DOTTI
MT, CASTRUCCI E, CORBINI L, ORSI A, HAYEK J.
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2
mutated Rett syndrome.
Clinical Neurophysiology. 2008 Oct 6. (IF 2,568)
225) RUFA A, BLARDI P, DE LALLA A, CEVENINI G, DE STEFANO N, ZICARI E,
AUTERI A, FEDERICO A, DOTTI MT.
Plasma levels of asymmetric dimethylarginine (ADMA) in Cerebral Autosomal
Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy
(CADASIL)
Cerebrovasc Dis 2008;26:636-640 (IF 2,150)
226) DENORA PS, SCHLESINGER D, CASALI C, KOK F, TESSA A, BOUKHRIS A,
AZZEDINE H, DOTTI MT, BRUNO C, TRUCHETTO J, BIANCHERI R, FEDIRKO E,
DI ROCCO M, BUENO C, MALANDRINI A, BATTINI R, SICKL E, DE LEVA MF,
BOESPFLUG-TANGUY O, SILVESTRI G, SIMONATI A, SAID E, FERBERT A,
CRISCUOLO C, HEINIMANN K, MODONI A, WEBER P, PALMERI S, PLASILOVA
M, PAURI F, CASSANDRINI D, BATTISTI C, PINI A, TOSETTI M, HAUSER E,
MASCIULLO M, FABIO RD, PICCOLO F, DENIS E, CIONI G, MASSA R, GIUSTINA
ED, CALABRESE O, MELONE MA, DE MICHELE G, FEDERICO A, BERTINI E,
DURR A, BROCKMANN K, VAN DER KNAAP MS, ZATZ M, FILLA A, BRICE A,
STEVANIN G, SANTORELLI FM.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations
and includes a large scale gene deletion.
Human Mutations 2008 Dec 22. [Epub ahead of print] (IF 6.845)
227) FORMICHI P, RADI E, BATTISTI C, DI MAIO G, TARQUINI E, LEONINI A, DI
STEFANO A, DOTTI MT, FEDERICO A.
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a
cohort of Italian patients.
J Cell Physiol. 2009 Jan 29. [Epub ahead of print]