Condition: Charcot-Marie-Tooth Disease, Type Ia (disorder)


rs2249498 in DSCAM gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30958311 2019 Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

rs4713376 in LINC00243 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30958311 2019 Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

rs8046213 in LITAF gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30958311 2019 Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

rs104894617 in PMP22 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 8510709 1993 Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

PMID 12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 8655153 1996 A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

PMID 8777804 1995 [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].

PMID 11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

PMID 10489052 1999 Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.

PMID 10737979 2000 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

PMID 12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PMID 1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

PMID 9040744 1997 A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.

PMID 8615087 1995 Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.

PMID 8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

PMID 9371959 1997 PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies.

PMID 9040737 1997 A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.

PMID 22006697 2011 Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

PMID 21252112 2011 Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

PMID 21149811 2010 Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.

rs10910527 in SIPA1L2 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30706531 2019 Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

rs303143 in SPATA5 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30706531 2019 Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.