- ►bmj.com R Claramunt, L Pedrola, T Sevilla, A Lopez de … - British Medical Journal, 2005 - jmg.bmj.com Genetic heterogeneity is characteristic of the disease not just because of the
large number of genes and loci associated with CMT (currently 21 genes), 3– 5
but also because the disease may segregate with different Mendelian ... Cited by 28 - Related articles - All 7 versions
- ►oxfordjournals.org T Sevilla, A Cuesta, MJ Chumillas, F … - Brain, 2003 - Oxford Univ Press Three Spanish families with an autosomal recessive severe hereditary motor and
sensory neuropathy, showing mutations in the
ganglioside-induced-differentiation-associated protein 1 (GDAP1) gene in ... Cited by 32 - Related articles - BL Direct - All 6 versions
- ►oxfordjournals.org J Senderek, C Bergmann, VT Ramaekers, E … - Brain, 2003 - Oxford Univ Press Mutations in the gene for the ganglioside-induced differentiation-associated
protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive
Charcot–Marie–Tooth (CMT) sensorimotor neuropathy. Neurophysiology and ... Cited by 46 - Related articles - BL Direct - All 5 versions
T Stojkovic, P Latour, G Viet, J de Seze, JF … - Neuromuscular disorders, 2004 - Elsevier Axonal forms of Charot-Marie-Tooth disease, either dominantly or recessively
inherited, are clinically and genetically heterogeneous. We describe the
clinical and electrophysiological characteristics of an axonal autosomal ... Cited by 23 - Related articles - All 6 versions
CF Boerkoel, H Takashima, M Nakagawa, S … - Annals of neurology, 2003 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 33 - Related articles - BL Direct - All 4 versions
- ►oxfordjournals.org L Pedrola, A Espert, X Wu, R Claramunt, ME … - Human molecular genetics, 2005 - Oxford Univ Press Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1
gene, cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive
form of neuropathy associated with either demyelinating or axonal ... Cited by 44 - Related articles - All 6 versions
- ►oxfordjournals.org A Marco, A Cuesta, L Pedrola, F Palau, I … - Molecular biology and evolution, 2004 - SMBE Mutations in the Ganglioside-induced differentiation-associated protein-1
(GDAP1) gene cause autosomal recessive Charcot-Marie-Tooth disease type 4A. The
protein encoded by GDAP1 shows clear similarity to glutathione transferases ... Cited by 26 - Related articles - All 12 versions
N Birouk, H Azzedine, O Dubourg, MP Muriel, … - Archives of neurology, 2003 - Am Med Assoc You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Add to CiteULike Add to ... Cited by 31 - Related articles - BL Direct - All 5 versions
- ►bmj.com D Sandre-Giovannoli… - British Medical Journal, 2003 - jmg.bmj.com We identified two novel GDAP1 homozygous mutations in children affected with
severe demyelinating peripheral neuropathies and born to consanguineous parents.
A 9 year old Lebanese girl carried a nonsense mutation in exon 5 and two ... Cited by 17 - Related articles - All 5 versions
E Nelis, S Erdem, PYK Van den Bergh, MC … - Neurology, 2002 - AAN Enterprises From the Molecular Genetics Department (Drs. Nelis, Van Broeckhoven, De Jonghe,
and Timmerman, V. Van Gerwen), Flanders Interuniversity Institute of
Biotechnology, Born–Bunge Foundation, University of Antwerp, Laboratory ... Cited by 63 - Related articles - BL Direct - All 5 versions
