Associated Papers
Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
Alhazmi AS et al.
Neurosciences (riyadh, Saudi Arabia), 2025
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
Murakami T et al.
Journal of the Neurological Sciences, 2013
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
Luigetti M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Previtali SC et al.
Expert Reviews in Molecular Medicine, 2007
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
Bolis A et al.
Molecular Neurobiology, 2007
Animal models of inherited neuropathies.
Meyer Zu Hörste G et al.
Current Opinion in Neurology, 2006
An animal model for Charcot-Marie-Tooth disease type 4B1.
Bonneick S et al.
Human Molecular Genetics, 2005
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Previtali SC et al.
Human Molecular Genetics, 2003
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Berger P et al.
Human Molecular Genetics, 2002
[5 Cases of Charcot-Marie disease with electromyography examinations].
DECHAUME et al.
Lyon Medical, 1957
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