Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
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Amyotrophic lateral sclerosis: considerations on diagnostic criteriaThe Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeA new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8qA new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisMutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaAxonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transportQuality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsPure hereditary spastic paraplegia.Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy.A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutationA novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasLoss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations.Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous traitThe prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.Cardiomyopathy in motor neuron diseases.Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaRecent advances in the genetics of spastic paraplegias.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations.Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging.Molecular basis of genetic heterogeneity: role of the clinical neurologist.The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.Hereditary spastic paraplegia with a thin corpus callosum.
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P2860
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Hereditary spastic paraplegia: ...... stic Paraplegia Working group.
@en
type
label
Hereditary spastic paraplegia: ...... stic Paraplegia Working group.
@en
prefLabel
Hereditary spastic paraplegia: ...... stic Paraplegia Working group.
@en
P2093
P356
P1433
P1476
Hereditary spastic paraplegia: ...... stic Paraplegia Working group.
@en
P2093
Figlewicz DA
Heiman-Patterson T
Pericak-Vance MA
Siddique T
P304
P356
10.1212/WNL.46.6.1507
P407
P577
1996-06-01T00:00:00Z