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Sex-dependent rearrangements resulting in CMT1A and HNPP. [electronic resource] by
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The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. [electronic resource] by
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Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. [electronic resource] by
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Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. [electronic resource] by
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Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1. [electronic resource] by
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European journal of human genetics : EJHG vol. 7
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47.
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Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group. [electronic resource] by
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In:
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48.
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Molecular analysis of a ring chromosome X in a family with fragile X syndrome. [electronic resource] by
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49.
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Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A. [electronic resource] by
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European journal of human genetics : EJHG vol. 8
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50.
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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. [electronic resource] by
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51.
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The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. [electronic resource] by
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In:
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Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. [electronic resource] by
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Glial cell line-derived neurotrophic factor (GDNF) gene expression in the human brain: a post mortem in situ hybridization study with special reference to Parkinson's disease. [electronic resource] by
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A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. [electronic resource] by
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Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. [electronic resource] by
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X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. [electronic resource] by
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57.
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Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. [electronic resource] by
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Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. [electronic resource] by
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- Zemmouri, R
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59.
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Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. [electronic resource] by
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- Plassart, E
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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. [electronic resource] by
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- Verny, C
- Brice, A
- Sherman, D L
- Brophy, P J
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- Delague, V
- Bareil, C
- Mégarbané, A
- Claustres, M
Producer: 20010607
In:
Human molecular genetics vol. 10
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