Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
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The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeMaspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementiaMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.Hereditary spastic paraparesis: a review of new developments.A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasGenetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.Recent advances in the genetics of spastic paraplegias.SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter.Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.Atypical dementia and spastic paraplegia in a patient with primary lateral sclerosis and numerous necortical beta amyloid plaques: new disorder or Alzheimer's disease variant?Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneitySpastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
P2860
Q24531747-177D2E5C-2AC1-4CDB-88C2-16EBAC4580B3Q24532220-3649E006-63EB-4A00-81B8-C50F7174A425Q24672831-021181EF-BF0E-4D6F-ACE6-2C1357D2B68DQ33711126-C2A027F2-948F-4668-A9DD-EB5276675C22Q33907977-D5E95FE2-C057-424D-B82A-28A570B31848Q33969651-C60FEBA2-47A3-43EC-BB06-626C60CDCF11Q34145197-176AA9F1-EBA4-4B28-988F-E082EE974A7FQ34722797-4D3CFC21-5C8D-4F6F-AF30-A47151A5C166Q35059321-34E04038-81BA-4AE4-86AC-0021BD9622E9Q35439886-E0E66C32-254C-46FA-B3C5-55EF83437CE1Q36238903-D07DDF06-D472-4AD6-9956-B31ACA024C25Q37186867-0B0DDAE6-18F9-4008-AA2A-9CE777B2B88FQ37313477-72AB388D-5DB8-444E-96F7-EBDEBF7BA55CQ38682634-B7367766-69D2-4C84-BE82-93AC4F557AF6Q38917807-78C783D3-2046-4412-81F1-C9771520AFA0Q46132585-EA7F5E4F-B2A5-4925-834E-6DE1A086EC79Q47339643-C368E652-171A-4D5A-9D0E-6D52DDDCF5B9Q48081283-01B6AA22-83AF-4A0D-B829-6B1413DC888CQ48110284-97B3045C-998F-47CF-9D3A-8C2BE4EC3494Q48160809-423DEB17-6F45-4841-B72E-12E1BE55C3B2Q48540314-A2690AA4-A649-4CD7-96F7-08057C4FFDCBQ48739111-6DCFDB93-B939-490A-A3FA-02A538D8422AQ51896097-74FA094F-C775-4047-B74F-275D9CA6C157Q51900167-C31C5129-5A2F-4112-AA73-E893BE9FE3C8Q51906337-813DCADE-19B2-441A-8850-83B1DBED0B7DQ51922886-017B17EF-1051-496E-9298-B0C34537B5BCQ51955488-81CB778F-A14B-47D4-A167-09D75DFD6B41Q53236678-A1318CA4-4961-46A8-985E-03D20A8FC1D7Q56991693-A03671EB-DE51-41B0-B527-134E6D768FB9Q57970888-E3A9F143-5C0A-4C23-B83A-381AE6383F2C
P2860
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@ast
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@en
type
label
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@ast
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@en
prefLabel
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@ast
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@en
P2093
P356
P1433
P1476
Genetic localization of a new ...... astic paraparesis to 15q13-15.
@en
P2093
Galluzzi G
Hoffman EP
Kobayashi H
Martínez Murillo F
Pegoraro E
P356
10.1212/WNL.53.1.50
P407
P577
1999-07-01T00:00:00Z