Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
about
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Emerging Monogenic Complex Hyperkinetic Disorders.Ferric Chelate Reductase 1 Like Protein (FRRS1L) Associates with Dynein Vesicles and Regulates Glutamatergic Synaptic Transmission.Somatic Accumulation of GluA1-AMPA Receptors Leads to Selective Cognitive Impairments in Mice.
P2860
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
description
2016 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im Juni 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2016/06/02)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/06/02)
@nl
наукова стаття, опублікована в червні 2016
@uk
مقالة علمية (نشرت في 2-6-2016)
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name
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@en
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@nl
type
label
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@ast
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@en
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@nl
prefLabel
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@ast
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@en
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@nl
P2093
P2860
P50
P921
P1476
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
@en
P2093
Angela Myers
Anna Yarrow
Brij B. Singh
Colleen C. Muraresku
Dawn Cordeiro
Elizabeth M. McCormick
Hamid Azzedine
Heba Y. El Khashab
Indra Chandrasekar
Jill A. Rosenfeld
P2860
P304
P356
10.1016/J.AJHG.2016.04.008
P407
P50
P577
2016-06-02T00:00:00Z