Charcot Marie Tooth disease

LE WE PMID CA

Charcot Marie Tooth disease

503

Charcot Marie Tooth Syndrom

Arts syndrome

Cell secretion (Intracellular transport)

Charcot Marie Tooth disease

Choroideremia

Deafness (Inherited)

Dejerine Sottas Syndrom

Griscelli s syndrome2

Heart (Cardiomyopathy dilated)

Hutchinson Gilford syndrome

Laminopathy

Lipodystrphy Dunnigan type

Mandibuloacral dysplasia

Martsolf syndrome

MPZ

Myelin

Nuclear membrane

Peripheral nervous system (Neuropathy)

Phosphoribosylpyrophosphate synthetase

RAB

Warburg Micro syndrome

X linked non specific mental retardation

2006 1	Charcot-marie-tooth disease: seventeen causative genes. [20396492] J Clin Neurol 2(2): 92-106 (2006)
2008 2	Charcot-Marie-Tooth disease: a clinico-genetic confrontation. [18215208] Ann Hum Genet 72(Pt 3): 416-41 (2008)
1998 3	Genetic aspects of Charcot-Marie-Tooth disease. [9623390] Arch Dis Child 78(4): 296-300 (1998)
2003 4	Genetics of Charcot-Marie-Tooth disease. [12707058] Arch Neurol 60(4): 481-2 (2003)
2000 5	The many faces of Charcot-Marie-Tooth disease. [10815126] Arch Neurol 57(5): 638-40 (2000)
2003 6	Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. [12477701] Brain 126(Pt 1): 134-51 (2003)
2000 7	Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. [10648431] Brain 123 ( Pt 2)(-): 222-33 (2000)
1992 8	Charcot-Marie-Tooth disease type 1. [1552540] J Med Genet 29(1): 3-4 (1992)
2010 9	PRPS1 mutations: four distinct syndromes and potential treatment. [20380929] Am J Hum Genet 86(4): 506-18 (2010)
2009 10	Diagnosis of Charcot-Marie-Tooth disease. [19826499] J Biomed Biotechnol 2009(-): 985415 (2009)
2010 11	Diseases of the nuclear envelope. [20182615] Cold Spring Harb Perspect Biol 2(2): a000760 (2010)
2004 12	Molecular genetics of distal hereditary motor neuropathies. [15358725] Hum Mol Genet 13 Spec No 2(-): R195-202 (2004)
2004 13	Phenotypic clustering in MPZ mutations. [14711881] Brain 127(Pt 2): 371-84 (2004)
2008 14	Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. [18463892] Eur J Pediatr 167(7): 723-9 (2008)

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