Mora M - Search Results

1

Charcot-Marie-Tooth disease type 2 and P0 gene mutations.

Pareyson D, Sghirlanzoni A, Bolti S, Ciano C, Fallica E, Mora M, Taroni F. Pareyson D, et al. Among authors: mora m. Neurology. 1999 Mar 23;52(5):1110-1. doi: 10.1212/wnl.52.5.1106-f. Neurology. 1999. PMID: 10102454 No abstract available.

2

Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.

Pareyson D, Menichella D, Botti S, Sghirlanzoni A, Fallica E, Mora M, Ciano C, Shy ME, Taroni F. Pareyson D, et al. Among authors: mora m. Ann N Y Acad Sci. 1999 Sep 14;883:477-80. Ann N Y Acad Sci. 1999. PMID: 10586278 No abstract available.

3

Heterozygous Null Mutation in the P₀ Gene Associated with Mild Charcot-Marie-Tooth Disease.

Pareyson D, Menichella D, Botti S, Sghirlanzoni A, Fallica E, Mora M, Ciano C, Shy ME, Taroni F. Pareyson D, et al. Among authors: mora m. Ann N Y Acad Sci. 1999 Oct;883(1):477-480. doi: 10.1111/j.1749-6632.1999.tb08615.x. Ann N Y Acad Sci. 1999. PMID: 29086956 No abstract available.

4

Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.

Di Blasi C, Mora M, Pareyson D, Farina L, Sghirlanzoni A, Vignier N, Blasevich F, Cornelio F, Guicheney P, Morandi L. Di Blasi C, et al. Among authors: mora m. Ann Neurol. 2000 Jun;47(6):811-6. Ann Neurol. 2000. PMID: 10852549

5

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: mora m. Ann Neurol. 1998 Jan;43(1):98-101. doi: 10.1002/ana.410430116. Ann Neurol. 1998. PMID: 9450773

6

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.

Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. Ann Neurol. 2004 Jul;56(1):133-8. doi: 10.1002/ana.20158. Ann Neurol. 2004. PMID: 15236412

7

Chloroquine myopathy and myasthenia-like syndrome.

Sghirlanzoni A, Mantegazza R, Mora M, Pareyson D, Cornelio F. Sghirlanzoni A, et al. Among authors: mora m. Muscle Nerve. 1988 Feb;11(2):114-9. doi: 10.1002/mus.880110205. Muscle Nerve. 1988. PMID: 3343986

8

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Among authors: mora m. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297

9

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A, Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D. Sagnelli A, et al. Among authors: mora m. Neuromuscul Disord. 2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19. Neuromuscul Disord. 2014. PMID: 24380807

10

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

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