A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

Human Molecular Genetics ◽

10.1093/hmg/10.4.415 ◽

2001 ◽

Vol 10 (4) ◽

pp. 415-421 ◽

Author(s):

A. Guilbot

Keyword(s):

Autosomal Recessive ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Autosomal Recessive Form ◽

Recessive Form ◽

Download Full-text

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

Human Molecular Genetics ◽

10.1093/hmg/5.10.1685 ◽

1996 ◽

Vol 5 (10) ◽

pp. 1685-1688 ◽

Author(s):

E LeGuern

Keyword(s):

Autosomal Recessive ◽

Homozygosity Mapping ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Autosomal Recessive Form ◽

Recessive Form ◽

Download Full-text

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

Neuromuscular Disorders ◽

10.1016/s0960-8966(97)87322-1 ◽

1997 ◽

Vol 7 (6-7) ◽

pp. 466-467

Author(s):

E. LeGuern ◽

A. Guilbot ◽

M. Kessali ◽

N. Ravise ◽

J. Tassin ◽

...

Keyword(s):

Autosomal Recessive ◽

Homozygosity Mapping ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Autosomal Recessive Form ◽

Recessive Form ◽

Download Full-text

The human neuregulin-2 ( NRG2 ) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q

Human Genetics ◽

10.1007/s004390050961 ◽

1999 ◽

Vol 104 (4) ◽

pp. 326-332 ◽

Author(s):

H. Z. Ring ◽

H. Chang ◽

Angèle Guilbot ◽

Alexis Brice ◽

Eric LeGuern ◽

...

Keyword(s):

Gene Cloning ◽

Autosomal Recessive ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Autosomal Recessive Form ◽

Recessive Form ◽

Download Full-text

Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease

Neurology and Clinical Neuroscience ◽

10.1111/ncn3.12126 ◽

2017 ◽

Vol 5 (4) ◽

pp. 124-126

Author(s):

Hiroyuki Ishiura ◽

Jun Mitsui ◽

Jun Yoshimura ◽

Koichiro Doi ◽

Shinichi Morishita ◽

...

Keyword(s):

Autosomal Recessive ◽

Novel Mutation ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Autosomal Recessive Form ◽

Recessive Form ◽

Download Full-text

AUTOSOMAL RECESSIVE AND X-LINKED FORMS OF CHARCOT-MARIE-TOOTH DISEASE IN CHILDHOOD

Neuropediatrics ◽

10.1055/s-2006-945552 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

R Ouvrier

Keyword(s):

Autosomal Recessive ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Download Full-text

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Genomics ◽

10.1006/geno.1999.6028 ◽

1999 ◽

Vol 62 (3) ◽

pp. 344-349 ◽

Author(s):

Kamel Ben Othmane ◽

Ellen Johnson ◽

Marisa Menold ◽

Felicia L. Graham ◽

Mongi Ben Hamida ◽

...

Keyword(s):

Autosomal Recessive ◽

Chromosome 11P15 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Download Full-text

A splice-junction mutation in SBF2 gene causes autosomal recessive charcot-marie-tooth disease (CMT4B2) in a family from southern italy

Journal of the Peripheral Nervous System ◽

10.1111/j.1085-9489.2004.009209bn.x ◽

2004 ◽

Vol 9 (2) ◽

pp. 124-124

Author(s):

FL Conforti ◽

M Muglia ◽

R Mazzei ◽

P Valentino ◽

A Patitucci ◽

...

Keyword(s):

Autosomal Recessive ◽

Southern Italy ◽

Splice Junction ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Download Full-text

G.P.11.12 Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-Tooth disease associated with mutations in the GDAP1 gene

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.06.219 ◽

2007 ◽

Vol 17 (9-10) ◽

pp. 826

Author(s):

A. Bouhouche ◽

H. Azzedine ◽

O. Dubourg ◽

A. Benomar ◽

H. Belaidi ◽

...

Keyword(s):

Autosomal Recessive ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Download Full-text

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

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.66.5.569 ◽

1999 ◽

Vol 66 (5) ◽

pp. 569-574 ◽

Author(s):

A. Gabreels-Festen ◽

S. van Beersum ◽

L. Eshuis ◽

E. LeGuern ◽

F. Gabreels ◽

...

Keyword(s):

Autosomal Recessive ◽

Sensory Neuropathy ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Phenotypic Characterisation ◽

Tooth Disease ◽

Motor And Sensory Neuropathy

Download Full-text

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in theGDAP1Gene

Neuropediatrics ◽

10.1055/s-2005-865606 ◽

2005 ◽

Vol 36 (3) ◽

pp. 206-209 ◽

Author(s):

D. Kabzińska ◽

A. Kochański, ◽

H. Drac ◽

B. Ryniewicz ◽

K. Rowińska-Marcińska ◽

...

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Download Full-text