Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
about
Rab18 and a Rab18 GEF complex are required for normal ER structure.Retrograde labeling, transduction, and genetic targeting allow cellular analysis of corticospinal motor neurons: implications in health and diseaseDifferential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisAxonal transport: cargo-specific mechanisms of motility and regulationMembrane-shaping disorders: a common pathway in axon degenerationThe spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 FunctionTECPR2 Associated Neuroaxonal Dystrophy in Spanish Water DogsHereditary spastic paraplegia SPG4: what is known and not known about the disease.Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyMyelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorderParkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synucleinIn Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic ParaplegiaThe hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipaseStructural basis of myelin-associated glycoprotein adhesion and signallingBiallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.PMCA4 (ATP2B4) mutation in familial spastic paraplegia.Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudySpastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.The crystal structure of human GlnRS provides basis for the development of neurological disorders.Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transportInborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Transfer RNA and human diseaseLow dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia.Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling.Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegiaA novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.Too many numbers and complexity: time to update the classifications of neurogenetic disorders?Mitochondrial fission augments capsaicin-induced axonal degenerationExome sequencing in undiagnosed inherited and sporadic ataxiasNetwork tuned multiple rank aggregation and applications to gene ranking.Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindredDiscoveries and advances in plant and animal genomicsRecessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases
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P2860
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
description
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Science
@fr
artículu científicu espublizáu en 2014
@ast
im Januar 2014 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2014/01/31)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/01/31)
@nl
наукова стаття, опублікована в січні 2014
@uk
name
Exome sequencing links cortico ...... on neurodegenerative disorders
@ast
Exome sequencing links cortico ...... on neurodegenerative disorders
@en
Exome sequencing links cortico ...... on neurodegenerative disorders
@nl
type
label
Exome sequencing links cortico ...... on neurodegenerative disorders
@ast
Exome sequencing links cortico ...... on neurodegenerative disorders
@en
Exome sequencing links cortico ...... on neurodegenerative disorders
@nl
prefLabel
Exome sequencing links cortico ...... on neurodegenerative disorders
@ast
Exome sequencing links cortico ...... on neurodegenerative disorders
@en
Exome sequencing links cortico ...... on neurodegenerative disorders
@nl
P2093
P2860
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P3181
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P1433
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Exome sequencing links cortico ...... on neurodegenerative disorders
@en
P2093
Ahmet Caglayan
Ali Benomar
Ali G. Fenstermaker
Alice A. Koh
Amira Masri
Andrew D. Heiberg
Anide Johansen
Ariana Karminejad
Basak Rosti
Bita Bozorgmehri
P2860
P304
P3181
P356
10.1126/SCIENCE.1247363
P407
P50
P577
2014-01-31T00:00:00Z