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

[1]  S. Züchner,et al.  Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. , 2003, Brain : a journal of neurology.

[2]  C. van Broeckhoven,et al.  Mutations in GDAP1 , 2002, Neurology.

[3]  C. Stewart,et al.  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. , 2002, American journal of human genetics.

[4]  J. Gilbert,et al.  Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 , 2002, Nature Genetics.

[5]  I. Marín,et al.  The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease , 2002, Nature Genetics.

[6]  L. Kalaydjieva,et al.  Hereditary motor and sensory neuropathy‐russe: New autosomal recessive neuropathy in balkan gypsies , 2001, Annals of neurology.

[7]  A. Mégarbané,et al.  A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. , 2001, Human molecular genetics.

[8]  P. Stankiewicz,et al.  Periaxin mutations cause recessive Dejerine-Sottas neuropathy. , 2001, American journal of human genetics.

[9]  M. Hamida,et al.  Linkage of a new locus for autosomal recessive axonal form of Charcot–Marie–Tooth disease to chromosome 8q21.3 , 2001, Neuromuscular Disorders.

[10]  R. Barrantes,et al.  A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. , 2001, American journal of human genetics.

[11]  P K Thomas,et al.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. , 2000, American journal of human genetics.

[12]  Aldo Quattrone,et al.  Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 , 2000, Nature Genetics.

[13]  M. Wong,et al.  Glutathione S-transferases--a review. , 1999, Current medicinal chemistry.

[14]  C. van Broeckhoven,et al.  The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. , 1999, Brain : a journal of neurology.

[15]  J. Lupski,et al.  Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies , 1998, Nature Genetics.

[16]  M. Pericak-Vance,et al.  Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. , 1993, Human molecular genetics.

[17]  J. Vance,et al.  Hereditary motor and sensory neuropathies. , 1991, Journal of medical genetics.