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Items: 1 to 20 of 514

1.

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.

Arch Neurol. 2003 Apr;60(4):598-604.

PMID:
12707075
2.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.

Brain. 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8.

PMID:
17347251
3.

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.

Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O.

Neuromuscul Disord. 2003 May;13(4):341-6.

PMID:
12868504
4.

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V.

Neurology. 2002 Dec 24;59(12):1865-72.

PMID:
12499475
5.

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ.

Brain. 2003 Sep;126(Pt 9):2023-33. Epub 2003 Jun 23.

PMID:
12821518
6.

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.

Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19.

PMID:
18492089
7.

A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.

Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M.

Can J Neurol Sci. 2007 Nov;34(4):421-6.

PMID:
18062449
8.

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM.

Brain. 2003 Mar;126(Pt 3):642-9.

PMID:
12566285
9.

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P.

Neurology. 1998 Apr;50(4):1074-82.

PMID:
9566397
10.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
11.

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T.

J Peripher Nerv Syst. 2010 Dec;15(4):334-44. doi: 10.1111/j.1529-8027.2010.00286.x.

PMID:
21199105
12.

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.

Brain. 2004 Jan;127(Pt 1):154-63. Epub 2003 Nov 7.

PMID:
14607793
13.

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E.

Am J Hum Genet. 1999 Sep;65(3):722-7.

14.

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P.

Neuromuscul Disord. 2003 Nov;13(9):720-8.

PMID:
14561495
15.

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K.

Can J Neurol Sci. 2006 Aug;33(3):311-6.

PMID:
17001820
16.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

17.

GDAP1 mutations in Czech families with early-onset CMT.

Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P.

Neuromuscul Disord. 2007 Jun;17(6):482-9. Epub 2007 Apr 11.

PMID:
17433678
18.

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.

Kabzińska D, Kochański A, Drac H, Rowińska-Marcińska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I.

J Neurol Sci. 2006 Feb 15;241(1-2):7-11. Epub 2005 Dec 15.

PMID:
16343542
19.

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E.

J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74.

20.

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.

Neuromuscul Disord. 2004 Apr;14(4):261-4.

PMID:
15019704

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