Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
about
Medical management of hereditary optic neuropathies.Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1ENocturnal Sleep Dynamics Identify Narcolepsy Type 1Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.Genetic alterations of DNA methylation machinery in human diseases.DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation.DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.Optic neuropathies: the tip of the neurodegeneration iceberg.
P2860
Q33980183-C8FF532A-BBF3-46A4-A744-25A88FB606B3Q34183440-AD80375A-1B93-407F-94D4-6027F59B2A80Q35866954-FAF62EC6-E607-4F59-970B-1CD4FDC660DFQ37238088-A61270F0-0EC2-4F77-A945-BE8B03D4D0A3Q38459846-78F5E8BE-3E95-4F77-9EAA-BA749129DA48Q42291322-A9874DAD-BBFA-4AB0-805A-3CED2321500EQ43184131-F2DF503B-ACA5-44CC-A953-DEE3AD7D6406Q48687979-2EDF7127-0331-4A02-96AB-0BE5F73FFB5FQ49608453-8DB69586-CA4A-4D45-9793-DE5DC1F8C889
P2860
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@en
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@nl
type
label
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@en
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@nl
prefLabel
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@en
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@nl
P2093
P2860
P50
P356
P1433
P1476
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
@en
P2093
Andrea Mignarri
Christian Franceschini
Domenico Inzitari
Ferdinando Cornelio
Giuseppe Capocchi
Keivan Kaveh Moghadam
Maria Teresa Dotti
Piero Barboni
Simona Ferrari
P2860
P304
P356
10.1093/BRAIN/AWU069
P407
P50
P577
2014-04-10T00:00:00Z