Publications

Found 10 results
Filters: Keyword is Nervous System Diseases  [Clear All Filters]
2017
Karaa A, Rahman S, Lombes A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC & Goldstein A (2017) Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis 40, 403-414
2016
Harel T, Yoon WHee, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RAlan, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ & Lupski JR (2016) Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845
2011
Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D'Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C & Zeviani M (2011) Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 43, 259-63
2010
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G & Zeviani M (2010) Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 86, 639-49
2002
Carelli V, Baracca A, Barogi S, Pallotti F, Valentino MLucia, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A & Solaini G (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 59, 264-70
2001
Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, Leguern E, Lehesjoki AE, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M & Zoharn A (2001) EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. Eur J Neurol 8, 407-24
Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, Leguern E, Lehesjoki AE, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M & Zoharn A (2001) EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts. Eur J Neurol 8, 299-314
1998
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P & Zeviani M (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol 43, 98-101
1996
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20
1991
Zeviani M & DiDonato S (1991) Neurological disorders due to mutations of the mitochondrial genome. Neuromuscul Disord 1, 165-72