about
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeThe Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeNovel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8qMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisMutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaDifferential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisA spastic paraplegia mouse model reveals REEP1-dependent ER shaping.Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants.Pure hereditary spastic paraplegia.Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Hereditary spastic paraparesis: a review of new developments.Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.Defective presynaptic choline transport underlies hereditary motor neuropathy.Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasHereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous traitMitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Mitochondrial protein quality control in health and disease.A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model.Mechanisms of postural instability in hereditary spastic paraplegia.Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders.Novel SPG20 mutation in an extended family with Troyer syndrome.Characterization of a novel SPG3A deletion in a French-Canadian family.Functional MRI of the cortical sensorimotor system in patients with hereditary spastic paraplegia.Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
P2860
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P2860
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Hereditary spastic paraplegias.
@ast
Hereditary spastic paraplegias.
@en
Hereditary spastic paraplegias.
@nl
type
label
Hereditary spastic paraplegias.
@ast
Hereditary spastic paraplegias.
@en
Hereditary spastic paraplegias.
@nl
prefLabel
Hereditary spastic paraplegias.
@ast
Hereditary spastic paraplegias.
@en
Hereditary spastic paraplegias.
@nl
P356
P1476
Hereditary spastic paraplegias.
@en
P2093
Harding AE
P304
P356
10.1055/S-2008-1041143
P577
1993-12-01T00:00:00Z