Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. - Wikidata - awgldk - TriplyDB

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

http://www.wikidata.org/entity/Q33425580

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Treatment for dysphagia (swallowing difficulties) in hereditary ataxia Treatment for dysphagia (swallowing difficulties) in hereditary ataxia syndromes Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12 Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia Benign hereditary chorea, not only chorea: a family case presentation Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Prevalence of ataxia in children: a systematic review Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Milestones in ataxia Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Tissue-specific functional networks for prioritizing phenotype and disease genes.Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm.Structural and dynamic basis of human cytochrome P450 7B1: a survey of substrate selectivity and major active site access channels.Friedreich ataxia in Norway - an epidemiological, molecular and clinical study Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs)Genetic and phenotypic characterization of complex hereditary spastic paraplegia Health survey of adults with hereditary spastic paraparesis compared to population study controls.Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Spinocerebellar ataxia type 10: from Amerindians to Latin Americans.Degenerative Ataxias: challenges in clinical research.A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease.The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.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.Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

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P2860

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

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2009 nî lūn-bûn

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2009 թուականի Մարտին հրատարակուած գիտական յօդուած

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Anne Kjersti Erichsen

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Asbjørg Stray-Pedersen

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Chantal M E Tallaksen

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Michael Abdelnoor

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P2860

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Recent advances in hereditary spastic paraplegia.

Alpha fetoprotein is increasing with age in ataxia-telangiectasia.

Sporadic adult onset ataxia of unknown etiology : a clinical, electrophysiological and imaging study.

Dominant ataxias and Friedreich ataxia: an update.

The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

Population based study of late onset cerebellar ataxia in south east Wales.

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

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Pt 6

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