Publications

Found 27 results
Filters: Keyword is Muscles  [Clear All Filters]
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
2013
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA & Prokisch H (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93, 211-23
2012
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W & Prokisch H (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90, 314-20
Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G & Zeviani M (2012) Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis 35, 451-8
2011
Lee S, Tak E, Lee J, Rashid MA, Murphy MP, Ha J & Kim SSoo (2011) Mitochondrial H2O2 generated from electron transport chain complex I stimulates muscle differentiation. Cell Res 21, 817-34
2009
Tain LS, Mortiboys H, Tao RN, Ziviani E, Bandmann O & Whitworth AJ (2009) Rapamycin activation of 4E-BP prevents parkinsonian dopaminergic neuron loss. Nat Neurosci 12, 1129-35
2006
Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M & Uziel G (2006) Effects of riboflavin in children with complex II deficiency. Brain Dev 28, 576-81
Zordan MA, Cisotto P, Benna C, Agostino A, Rizzo G, Piccin A, Pegoraro M, Sandrelli F, Perini G, Tognon G, De Caro R, Peron S, Kronniè TTe, Megighian A, Reggiani C, Zeviani M & Costa R (2006) Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1. Genetics 172, 229-41
2001
Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G & Comi GP (2001) A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 57, 2295-8
1999
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M & Meitinger T (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46, 161-6
1998
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW & Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43, 110-6
1994
Prelle A, Fagiolari G, Checcarelli N, Moggio M, Battistel A, Comi GP, Bazzi P, Bordoni A, Zeviani M & Scarlato G (1994) Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathol 87, 371-6
1993
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C & DiDonato S (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1, 80-7
Franceschetti S, Antozzi C, Binelli S, Carrara F, Nardocci N, Zeviani M & Avanzini G (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 87, 219-23
1992
Fabrizi GM, Sadlock J, Hirano M, Mita S, Koga Y, Rizzuto R, Zeviani M & Schon EA (1992) Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene 119, 307-12
1991
Arenas J, Ricoy JR, Encinas AR, Pola P, D'Iddio S, Zeviani M, DiDonato S & Corsi M (1991) Carnitine in muscle, serum, and urine of nonprofessional athletes: effects of physical exercise, training, and L-carnitine administration. Muscle Nerve 14, 598-604
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S & Tonali P (1991) Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 41, 1053-9
Finocchiaro G, Zeviani M, Garavaglia B, Gellera C, Bertagnolio B, Rimoldi M & Di Donato S (1991) [Metabolic myopathies]. Minerva Pediatr 43, 81-9
Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A & DiDonato S (1991) Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48, 203-11
1988
Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R & DiMauro S (1988) McArdle's disease: biochemical and molecular genetic studies. Ann Neurol 24, 774-81
Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, Di Mauro S, Lugaresi E & Andermann F (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38, 751-4
1987
Zeviani M, Peterson P, Servidei S, Bonilla E & DiMauro S (1987) Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology 37, 64-7
DiMauro S, Servidei S, Zeviani M, Dirocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G & Johnsen SD (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22, 498-506
Wood DS, Zeviani M, Prelle A, Bonilla E, Salviati G, Miranda AF, DiMauro S & Rowland LP (1987) Is nebulin the defective gene product in Duchenne muscular dystrophy?. N Engl J Med 316, 107-8
1985
Bresolin N, Zeviani M, Bonilla E, Miller RH, Leech RW, Shanske S, Nakagawa M & DiMauro S (1985) Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology 35, 802-12

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