founder effect mutations, inheritance, phenotypic variability, and Genetics of Charcot-Marie-Tooth disease type 4A:

[1]  P. Vermersch,et al.  Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene , 2004, Neuromuscular Disorders.

[2]  Luciano Merlini,et al.  Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease , 2003, Neuromuscular Disorders.

[3]  Antonio Marco,et al.  Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. , 2003, Molecular biology and evolution.

[4]  U. Suter,et al.  Disease mechanisms in inherited neuropathies , 2003, Nature Reviews Neuroscience.

[5]  L. Pedrola,et al.  Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. , 2003, Brain : a journal of neurology.

[6]  J. Lupski,et al.  Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies , 2003, Journal of Investigative Medicine.

[7]  A. Mégarbané,et al.  Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations , 2003, Journal of medical genetics.

[8]  M. Ruberg,et al.  Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene , 2003, Neuromuscular Disorders.

[9]  A. Brice,et al.  Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. , 2003, Archives of neurology.

[10]  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.

[11]  J. Lupski,et al.  CMT4A: Identification of a Hispanic GDAP1 founder mutation , 2003, Annals of neurology.

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

[13]  Michael E Shy,et al.  Hereditary motor and sensory neuropathies: a biological perspective , 2002, The Lancet Neurology.

[14]  I. Akiguchi,et al.  Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot‐Marie‐Tooth disease type 1 , 2000, Annals of neurology.

[15]  Y. Parman,et al.  Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine‐Sottas disease , 1999, Annals of neurology.

[16]  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.

[17]  F. Muntoni,et al.  Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene , 1998, Neurology.

[18]  M. Slatkin,et al.  Estimating the age of alleles by use of intraallelic variability. , 1997, American journal of human genetics.

[19]  J. Lupski,et al.  Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination , 1996, Neuron.

[20]  D. F. Roberts,et al.  The History and Geography of Human Genes , 1996 .

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

[22]  N. Shimizu,et al.  Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene , 1993, Nature Genetics.

[23]  F. Baas,et al.  Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B , 1993, Nature Genetics.

[24]  O. Combarros,et al.  Prevalence of hereditary motor and sensory neuropathy in Cantabria , 1987, Acta neurologica Scandinavica.

[25]  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.

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

[27]  N. Tachi,et al.  De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III) , 1993, Nature Genetics.