Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
about
Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin ComplexATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.Spastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaToo many numbers and complexity: time to update the classifications of neurogenetic disorders?Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseAlteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaEffects of low-level laser therapy (LLLT 808 nm) on lower limb spastic muscle activity in chronic stroke patients.Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.Genetics of movement disorders in the next-generation sequencing era.De novo REEP2 missense mutation in pure hereditary spastic paraplegia.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.Hereditary spastic paraplegia from 1880 to 2017: an historical review.CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.Severe Convulsions and Dysmyelination in Both Jimpy and Cx32/47 -/- Mice may Associate Astrocytic L-Channel Function with Myelination and Oligodendrocytic Connexins with Internodal Kv Channels.Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.Hereditary spastic paraplegia type 11 with a very late onset.Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug DiscoveryInhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to NeurodegenerationBMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translationProgressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
description
2015 nî lūn-bûn
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2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Delving into the complexity of ...... revolutionizing their nosology
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Delving into the complexity of ...... revolutionizing their nosology
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Delving into the complexity of ...... revolutionizing their nosology
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type
label
Delving into the complexity of ...... revolutionizing their nosology
@ast
Delving into the complexity of ...... revolutionizing their nosology
@en
Delving into the complexity of ...... revolutionizing their nosology
@nl
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Delving into the complexity of ...... revolutionizing their nosology
@ast
Delving into the complexity of ...... revolutionizing their nosology
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Delving into the complexity of ...... revolutionizing their nosology
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P3181
P1433
P1476
Delving into the complexity of ...... revolutionizing their nosology
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P2093
Christelle Tesson
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P2888
P304
P3181
P356
10.1007/S00439-015-1536-7
P407
P577
2015-06-01T00:00:00Z
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1034330142