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Items: 1 to 20 of 327

1.

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.

Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D.

Neuromuscul Disord. 2004 May;14(5):301-6.

PMID:
15099588
2.

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.

Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 7.

3.

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
4.

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
5.

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.

6.

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M.

Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 2.

7.

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.

Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP.

Brain. 2000 Aug;123 ( Pt 8):1612-23.

PMID:
10908191
8.
9.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.

Arch Neurol. 2005 Aug;62(8):1201-7.

PMID:
16087758
10.

[Molecular genetics of inherited neuropathies].

Takashima H.

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

PMID:
16541790
11.

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
12.

Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F.

Neuromuscul Disord. 2001 Jan;11(1):27-34.

PMID:
11166163
13.

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R.

Hum Mol Genet. 1996 Sep;5(9):1373-5.

PMID:
8872480
14.

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.

Ionasescu VV, Ionasescu R, Searby C.

Muscle Nerve. 1993 Nov;16(11):1232-8.

PMID:
8413376
15.

Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system.

Hisama FM, Lee HH, Vashlishan A, Tekumalla P, Russell DS, Auld E, Goldstein JM.

Arch Neurol. 2001 Nov;58(11):1891-6.

PMID:
11709000
16.

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A.

Hum Mol Genet. 1996 Oct;5(10):1685-8.

PMID:
8894708
18.

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

Seeman P, Mazanec R, Ctvrtecková M, Smilková D.

Int J Mol Med. 2001 Oct;8(4):461-8.

PMID:
11562788
19.

Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.

Loprest LJ, Pericak-Vance MA, Stajich J, Gaskell PC, Lucas AM, Lennon F, Yamaoka LH, Roses AD, Vance JM.

Neurology. 1992 Mar;42(3 Pt 1):597-601.

PMID:
1549221
20.

Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.

Sahin-Calapoglu N, Soyoz M, Calapoglu M, Ozcelik N.

Int J Neurosci. 2009;119(8):1179-89.

PMID:
19922348

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