Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy-Reference-Cited by-同舟云学术

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Published:2003-03 Issue:3 Volume:72 Page:722-727
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Verhoeven Kristien,De Jonghe Peter,Coen Katrien,Verpoorten Nathalie,Auer-Grumbach Michaela,Kwon Jennifer M.,FitzPatrick David,Schmedding Eric,De Vriendt Els,Jacobs An,Van Gerwen Veerle,Wagner Klaus,Hartung Hans-Peter,Timmerman Vincent

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Auer-Grumbach M, De Jonghe P, Verhoeven K, Timmerman V, Wagner K, Hartung HP, Nicholson GA. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol (in press).

2. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus;Auer-Grumbach;Neurology,2000

3. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci;Auer-Grumbach;Neurology,2000

4. SPTLC1 is mutated in hereditary sensory neuropathy, type 1;Bejaoui;Nat Genet,2001

5. A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci;Bellone;Neuromuscul Disord,2002

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