Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
about
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyPrevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationHereditary spastic paraplegia with thin corpus callosumSPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosisNovel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishAlteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseKIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsA case report of SPG11 mutations in a Chinese ARHSP-TCC familyMutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Neurotransmitter abnormalities and response to supplementation in SPG11.SPG11 Presenting with TremorTurkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11.Genetic and phenotypic characterization of complex hereditary spastic paraplegiaRapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patientsCharacterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Severe axonal neuropathy is a late manifestation of SPG11.GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient iPSC model.Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Fishing for causes and cures of motor neuron disorders.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: Clinicogenetic lessons from 608 patients.Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.Clinical and genetic study of hereditary spastic paraplegia in Canada.Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Immunohistochemical localization of spatacsin in α-synucleinopathies.CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.[Ataxias and hereditary spastic paraplegias].
P2860
Q24338151-700D0066-CC98-4EB7-A222-CC98F39BCF66Q28081453-3D78F0DC-72EE-4002-9463-CDF7662C5EC6Q33425580-0B70E870-718B-463C-BE2F-A84F25F4652DQ33565194-782B4503-D9C7-44E2-A38F-31B5137DCD17Q33613005-34E12EE7-0A43-4F63-BC34-AD4C156F805BQ33656243-0DFA35F2-E6DE-4E87-AC6A-FF1BC8E5ABA9Q34152696-C5A2047F-5DB5-4C5F-AE5C-3C85EEC407F8Q34313405-7D0CDDCC-3F11-4492-BCB7-68FC946C8A8AQ34336776-A601A6A5-3823-4530-96AD-6B7DDFDBA666Q34615422-70F0DA86-CBDF-42FD-804F-B5D763AA0980Q34768405-6C271792-7183-4B66-A024-DE54807A339EQ34775800-CCA83497-FEAF-49B5-A6C9-FCD64173DBC7Q35924080-868824AE-9E6C-49C4-A133-EFE431F47243Q35969072-2F85924C-4EA5-460A-80C4-3F0C4D487E73Q36038867-0BFAE383-C1DC-43BB-981C-6C5DB25A134EQ36070359-DDD874D8-5534-43A2-91E4-15FA5C0A9F6FQ36454606-867B47BC-49A8-4DF3-9CFD-4BD8BD907A84Q36602867-AD02133F-46EB-4D1D-B16B-43D716454412Q36733859-40FEC5E7-E7BE-4B15-8000-07E668E54E1FQ37081945-E13D6D9A-822A-4BA7-B12D-0D415C0C9791Q37235143-DD7E06CA-B28C-4B97-990E-31A297773476Q37250132-D0A90CCE-EDC2-45A2-A2E7-6A4D481399CBQ37342355-4847A56A-1AF8-4A0A-8F46-54D18574B240Q37375578-B84AB1BD-B83D-42DA-BE35-EEDA7F5AAA57Q37416701-3A206007-C139-44D8-8D49-B487FFB8E36FQ38224042-E5667F44-2674-4693-8D0C-49B3909FFDC3Q38283979-D3EEEE80-F817-4C4B-B4A8-F69A2945D1C4Q38682634-5968A239-8CB3-46D6-B4BA-34CC2137BB4FQ38910805-B34B2A01-D739-4756-973A-94C50FD8C5EAQ39408122-3C989BD8-5308-44F0-B855-90FBF8EF6B77Q42357168-204C4D97-F911-4955-9B15-FC64F8A73DC4Q42562466-91688EB9-EA4B-4695-8A01-97D4C7C62706Q43534672-CE44F77C-FCD4-4C4C-9403-75F7B650AFA8Q43845311-87B84051-7060-4AE2-A0F1-C6FCBFC5235EQ47808952-9061B86D-8F6E-4C25-8093-56C297E47904Q48639114-B30712EB-4613-4FDF-8023-D736EF8A9220Q48772061-DE284284-EF3E-4697-A8AA-91A0E7D34834Q48958669-95AE7286-87C6-493C-8B6E-FB50956E5AD1Q49169440-88B7C713-E6B9-4D6D-96AB-5B7E1BA3DAD5Q50591916-9A66A6DF-436B-4550-B59C-039CCB171BF2
P2860
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@en
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@nl
type
label
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@en
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@nl
prefLabel
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@en
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in SPG11 are frequen ...... wer motor neuron degeneration.
@en
P2093
Abdelmadjid Hamri
Alberto Luis Rosa
Alexander Lossos
Amir Boukhris
Anne Kjersti Erichsen
Chantal Tallaksen
Christel Depienne
Cyril Goizet
Filippo M Santorelli
Florence Pasquier
P2860
P304
P356
10.1093/BRAIN/AWM293
P407
P50
P577
2007-12-13T00:00:00Z