Genetics of Charcot-Marie-Tooth disease type 4A: m...[J Med Genet. 2005] - PubMed Result

SearchDatabase nameforSearch term

Advanced Search

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Review: 0

Click to change filter selection through MyNCBI.

1: J Med Genet. 2005 Apr;42(4):358-65. Links

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

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.

PMID: 15805163 [PubMed - indexed for MEDLINE]

PMCID: PMC1736030

Related articles

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Neurology. 2004 Oct 26; 63(8):1527-9.

[Neurology. 2004]
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
J Neurol Neurosurg Psychiatry. 2004 Oct; 75(10):1495-8.

[J Neurol Neurosurg Psychiatry. 2004]
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
J Neurol Neurosurg Psychiatry. 2007 Nov; 78(11):1286-7.

[J Neurol Neurosurg Psychiatry. 2007]
ReviewMolecular genetics of neurodegenerative diseases.
Curr Opin Neurol Neurosurg. 1993 Feb; 6(1):34-9.

[Curr Opin Neurol Neurosurg. 1993]
ReviewHow to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
J Appl Genet. 2006; 47(3):255-60.

[J Appl Genet. 2006]
» See reviews... | » See all...

Cited by 1 PubMed Central article

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
Pedrola L, Espert A, Valdés-Sánchez T, Sánchez-Piris M, Sirkowski EE, Scherer SS, Fariñas I, Palau F. J Cell Mol Med. 2008 Apr; 12(2):679-89. Epub 2007 Nov 16.

[J Cell Mol Med. 2008]

Recent Activity

Clear Turn Off Turn On

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Display Show