Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. - Wikidata - awgldk - TriplyDB

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

http://www.wikidata.org/entity/Q48382425

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation Systematic review of autosomal recessive ataxias and proposal for a classification.Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Disturbed mitochondrial dynamics and neurodegenerative disorders.Mitochondrial Quality Control Proteases in Neuronal Welfare.Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.Clinical and genetic study of hereditary spastic paraplegia in Canada.The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.Early-onset optic neuropathy as initial clinical presentation in SPG7.Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.[Ataxias and hereditary spastic paraplegias].A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

http://www.wikidata.org/entity/Q48382425

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2012年学术文章

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2012年学术文章

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2012年學術文章

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Genotype-phenotype correlation ...... study in a large Dutch cohort.

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Bart P van de Warrenburg

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Charlotte D C C van der Heijden

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Corien C Verschuuren-Bemelmans

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Erik-Jan Kamsteeg

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H P H Kremer

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Koen L I van Gassen

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Susanne T de Bot

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Wilfred F A den Dunnen

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P2860

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

Multi-system neurological disease is common in patients with OPA1 mutations

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Axonal inclusions in spinocerebellar ataxia type 3.

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Classification of the hereditary ataxias and paraplegias.

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2994-3004

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scholarly article

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10.1093/BRAIN/AWS224

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Pt 10

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135

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Leonard H van den Berg

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2012-09-10T00:00:00Z

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230828796

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