Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
about
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesComplicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudySpastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseA case report of SPG11 mutations in a Chinese ARHSP-TCC familyNT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11.Genetic and phenotypic characterization of complex hereditary spastic paraplegiaSevere axonal neuropathy is a late manifestation of SPG11.Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.Clinical and genetic study of hereditary spastic paraplegia in Canada.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.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
P2860
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P2860
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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2014年學術文章
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name
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@en
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@nl
type
label
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@en
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@nl
prefLabel
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@en
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@nl
P2093
P50
P356
P1433
P1476
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
@en
P2093
Caterina Mariotti
Davide Pareyson
Elena Lamperti
Elisa Sarto
Ettore Salsano
Isabella Moroni
Lorenzo Nanetti
Paola Soliveri
P304
P356
10.1093/BRAIN/AWU121
P407
P50
P577
2014-05-15T00:00:00Z