Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
about
Neurogenomics in Africa: Perspectives, progress, possibilities and prioritiesCharacterization of Copy Number Variation's Potential Role in Marek's DiseaseThe node of Ranvier in CNS pathologyThe long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.RNAi for contactin 2 inhibits proliferation of U87-glioma stem cells by downregulating AICD, EGFR, and HES1Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Glycosylphosphatidylinositol-Anchored Immunoglobulin Superfamily Cell Adhesion Molecules and Their Role in Neuronal Development and Synapse Regulation.Contactin-2/TAG-1, active on the front line for three decades.Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.Rare gene deletions in genetic generalized and Rolandic epilepsies
P2860
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P2860
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
description
2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
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2013年论文
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name
Autosomal recessive cortical m ...... channel associated gene CNTN2
@ast
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en-gb
Autosomal recessive cortical m ...... channel associated gene CNTN2
@nl
type
label
Autosomal recessive cortical m ...... channel associated gene CNTN2
@ast
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en-gb
Autosomal recessive cortical m ...... channel associated gene CNTN2
@nl
prefLabel
Autosomal recessive cortical m ...... channel associated gene CNTN2
@ast
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en-gb
Autosomal recessive cortical m ...... channel associated gene CNTN2
@nl
P2093
P2860
P50
P356
P1433
P1476
Autosomal recessive cortical m ...... channel associated gene CNTN2
@en
P2093
Ahmed M Gaber
Amal Fouad
Anna Benet-Pages
Ekaterina Pataraia
Elisabeth Stogmann
Mahmoud Hemeda
Mohammed A El Etribi
Nevine El Nahhas
Sebastian H Eck
Tim M Strom
P2860
P304
P356
10.1093/BRAIN/AWT068
P407
P50
P577
2013-04-01T00:00:00Z