Lavori in extenso su riviste e libri

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1 Lavori in extenso su riviste e libri 1) DOTTI MT, SEGRE G. Effetti collaterali delle benzodiazepine. Farmaci 1977,3/4: ) DOTTI MT. Gli ipnotici Farmaci 1977,11: ) 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 ) DOTTI MT, SEGRE G. Psicofarmaci e biochimica cerebrale Farmaci 1978,5: ) DOTTI MT. L'aminaftone L'Intervista Medica 1978,10: ) DOTTI MT, SEGRE G. I più frequenti errori del medico nell'ipertensione essenziale Farmaci 1978,11: ) BRUNI G, DAL PRA P, DOTTI MT, SEGRE G. Plasma ACTH and cortisol levels in benzodiazepines treated rats Pharmacological Research Communications 1980,12 (2): ) 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): ) SEGRE G, DOTTI MT. Saper prescrivere: Un Tranquillante ESAM ed. Roma ) DOTTI MT, ROSSI A, RIZZUTO N, HAYEK G, BARDELLI N, BARDELLI AM, FEDERICO A.

2 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: ) 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 ) DOTTI MT, FEDERICO A, POLITO E, GUAZZI GC. Oftalmoplegie croniche progressive a patogenesi mitocondriale Atti 3 Congresso Nazionale di Oftalmologia Pediatrica, Roma 1986, pp ) 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): (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: ) 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 ) 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: ) 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: (IF 0.959)

3 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: ) 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): (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): (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): (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): (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): ) 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: (IF 1.358) 28) FEDERICO A, PALMERI S, FABRIZI GM, MANGANO L, DOTTI MT, MIRACCO C, TRIPALDELLI L, GUAZZI GC.

4 Hypomelanosis of Ito (Incontinentia pigmenti achromians): a case report with brain nuclear magnetic resonance imaging abormalities Brain Dysfunction 1990,2: ) 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: (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: ) FEDERICO A, DOTTI MT, PALMERI S. Le encefalo-neuro-miopatie genetiche dismetaboliche come causa di neurohandicap Quaderni di Acta Neurologica 1990, LV: ) 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: ) 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: ) 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: ) 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 ) 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 ) DOTTI MT, FEDERICO A, ANNUNZIATA P, EUSEBI MP, MALANDRINI A, SALVADORI C, GUAZZI GC.

5 Autoimmunitary changes in adrenoleukodystrophy and adrenomyeloneuropathy In, Uziel G, Wonders RJA, Cappa M, eds: Adrenoleukodystrophy and other peroxisomal disorders, Elsevier Publ. 1990: ) 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: ) 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: (IF 2.118) 41) FEDERICO A, DOTTI MT, VOLPI N. Muscle mitochondrial changes in cerebrotendinous xanthomatosis Annals of Neurology 1991,30: (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: (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: ) 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: ) FEDERICO A, DOTTI MT, GUAZZI GC. Le encefaloneuromiopatie genetiche dismetaboliche

6 In: Manuale di Neurofarmacoterapia, Il Pensiero Scientifico Ed, 1992: ) 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: ) 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: ) 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, ) FEDERICO A, DOTTI MT. Dalla clinica alla diagnostica biochimico-molecolare delle encefalo-neuromiopatie genetiche dismetaboliche Annali di Neurologia e Psichiatria 1992,86: ) 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: ) 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: ) 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

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 ) 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: (IF 0.859) 57) FEDERICO A, DOTTI MT. Diagnosi biochimico-molecolare delle neuropatie genetiche a chiave dismetabolica nota Rivista Italiana di Neuroscienze 1993,1: ) 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: ) 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: ) 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: ) 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: (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: (IF 2.463) 63) MACUCCI M, DOTTI MT, BATTISTINI S, DE STEFANO N, VECCHIONE V, OREFICE G, MALANDRINI A, FEDERICO A.

8 Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle Acta Neurologica 1994,16: ) 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: ) DOTTI MT, FEDERICO A, GUAZZI GC. Atassia telangiectasia: aspetti neurologici e neuroradiologici Nuova Rivista di Neurologia 1994,4: ) 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: ) 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 ) 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 ) 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: ) 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: (IF 0.681) 72) MANNESCHI L, DOTTI MT, BATTISTI C, DE STEFANO N, FEDERICO A.

9 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: (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 ) 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 ) 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 ) 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 ) DOTTI MT, FEDERICO A. Amiodarone induced parkinsonism: a case report and pathogenetic discussion Movement Disorders 1995,10 (2): (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: (IF 1.104) 79) DOTTI MT, MANNESCHI L, FEDERICO A Mitocondrial enzyme deficiency in CTX Journal of Neurological Sciences 1995,129: (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: (IF 2.895) 81) DOTTI MT, FEDERICO A. Le encefalopatie genetiche dismetaboliche come modello di studio della sindrome autistica Phoenix 1995,2:

10 82) BATTISTI C, DOTTI MT, MANNESCHI L, BARACCHINI MURATORIO G, FEDERICO A. Propionico acidemia: studio clinico, biochimico e follow-up terapeutico Phoenix 1995,2: ) 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: ) 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: ) 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: ) FEDERICO A, BATTISTI C, FORMICHI P, DOTTI MT. Plasma levels of vitamin E in Parkinson's disease Journal of Neural Transmission 1995,45: (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): ) FEDERICO A, DOTTI MT. Cerebrotendinous xanthomatosis In: Handbook of Clinical Neurology, Vinken PJ, Bruyn GW, eds. Helsevier Science B.V (vol 66), chap.28: ) FEDERICO A, DOTTI MT. Diagnosi delle malattie neurometaboliche ad esordio in età adulta presentantesi come demenza

11 Atti Corso di aggiornamento tra normalità e patologia. VII Giornate Psichiatriche in Lampedusa, 1996: ) 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: (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: (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-27- hydroxylase gene that disrupt mrna splacing Journal of Lipid Research 1996,37: (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 Corso di Aggiornamento della SIN. Editrice Pisani, 1996: ) DOTTI MT, FEDERICO A. Terapia della xantomatosi cerebrotendinea Neurologia Corso di Aggiornamento della SIN. Editrice Pisani, 1996: ) 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: (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: (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: (IF 2.450)

12 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: )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: (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: ) 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: ) 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: (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 Journal of Neurology 1998,245: (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: (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

13 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): ) 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: (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: (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: (IF 2.334) 111) MALANDRINI A, VILLANOVA M, DOTTI MT, FEDERICO A. Acute inflammatory neuropathy in Charcot-Marie-Tooth disease Neurology 1999,52: (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: (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: (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

14 10463 and 2835 Journal of Sumicroscopic Cytology and Pathology 1999,31 (2): ) 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: (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: (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 ) 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 ) 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 ) 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: (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: (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):S (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

15 familial case European Neurology, 2000,44: (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: (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): (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: (IF 3.345) 129) RUFA A, FEDERICO A, DOTTI MT Patologia della lente nelle malattie neurogenetiche Bollettino di oculistica 1999,suppl 3: ) 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: (IF 1.104) 131) DOTTI MT, FEDERICO A Ritardo mentale: linee guida per una diagnosi patogenetica Neurological Sciences 2000, 21:S ) FEDERICO A, DE STEFANO N, BATTISTI C, RUFA A, SICURELLI F, DOTTI MT Leucoencefalopatie genetiche a patogenesi metabolica ignota Neurological Sciences 2000, 21:S ) 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:S ) 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: ) DE STEFANO N, BALESTRI P, GROSSO S, DOTTI MT, MORTILLA M, MORGESE G, FEDERICO A

16 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: (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: (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: (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: (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: (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)

17 144) 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: ) 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.): (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: ) DOTTI MT, BIANCHI S, FEDERICO A CADASIL: aspetti clinico-diagnostici Neurological Sciences 2002, suppl vol 23:S561-S ) 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: (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, TREVISOL- BITTENCOURT 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: (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: (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.

18 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: (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: (IF 2.334) 154) FEDERICO A, DOTTI MT Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy Journal of Child Neurology 2003,18: (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: (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: (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): (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: (IF 4,336)

19 160) 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: (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: (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: (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): ) 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): (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: (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: (IF 1,59)

20 168) 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: (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: (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 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: (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): (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)

21 176) 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): (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): (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): (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: (IF 2,366)

22 185) 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 Available at 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): (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 Jul 25;67(2): (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

23 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): (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: (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): (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.

24 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): (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; (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 (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)

25 209) 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): (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 Dec;122(5): ) BIANCHI S, DOTTI MT, PERRETTI A, DE ROSA A, MANGANELLI F, FEDERICO A. Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL. Hum Genet Dec;122(5): ) 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.

26 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 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 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 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 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 Oct 1 (IF 3,110)