Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation
about
Discovery of CLC transport proteins: cloning, structure, function and pathophysiologyPosterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Mouse models of human ocular disease for translational research.Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations.
P2860
Q28086820-DC50CCE0-7447-482B-9B82-803EB2EE7CFAQ31087193-5EE592C3-BAD9-42AA-8EB5-560DA823F236Q38374425-3A3E7BC9-6A79-48E7-8764-89549D94E5F2Q38868539-B8F7313B-2E1B-4EFC-BE1B-CB412273155EQ39225398-789E48D3-A1B2-44C7-9CDC-62C01B809638Q41577738-9BFB4AAB-510F-4C29-8458-5A50C69DCB34Q47805092-62CBF47F-427A-4DD8-813A-30BDE732A635Q50211000-AFA9116C-57DB-4093-996D-C8086A2C39A2Q53141145-32CFD61F-A3B3-40C1-8D45-41D68AEBFD06
P2860
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation
description
article
@en
im August 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2014
@uk
name
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@en
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@nl
type
label
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@en
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@nl
prefLabel
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@en
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@nl
P2093
P50
P1433
P1476
Subclinical leukodystrophy and ...... ovel homozygous CLCN2 mutation
@en
P2093
Anna Sagnelli
Davide Pareyson
Ettore Salsano
Gioacchino Tedeschi
Laura Farina
Mario Savoiardo
Sara Bonato
Serena Caldarazzo
Simone Nava
P304
P356
10.1212/WNL.0000000000000812
P407
P577
2014-08-15T00:00:00Z