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Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

• Authors : Wiethoff S; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, Tübingen, Germany.

Subjects: Pedigree*; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics ; Mutation/Mutation/Mutation/*genetics

• Source: Journal of neurology [J Neurol] 2016 Aug; Vol. 263 (8), pp. 1503-10. Date of Electronic Publication: 2016 May 13.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A newly formed amyloidogenic fragment due to a stop codon mutation causes familial British dementia.

• Authors : Ghiso J; Department of Pathology, New York University School of Medicine, NY 10016, USA. ; Vidal R

Subjects: Chromosomes, Human, Pair 13* ; Codon, Terminator* ; Mutation*

• Source: Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 2000 Apr; Vol. 903, pp. 129-37.Publisher: New York Academy of Sciences Country of Publication: United States NLM ID: 7506858 Publication Model: Print Cited Medium: Print ISSN:

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Researchers at University College London (UCL) Have Reported New Data on Miller Fisher Variant of Guillain-Barre Syndrome (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome: Genetic and Clinical Insights).

• Source: Health & Medicine Week. 2021, pages. 5739

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Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.

• Authors : Jenkins, Christopher A.; Kalmar, Lajos; Matiasek, Kaspar

• Source: PLoS Genetics. January 30, 2020, Vol. 16 Issue 1, e1008527.

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Researchers from Newcastle University Report Recent Findings in Cerebellar Ataxia (Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia).

• Source: Health & Medicine Week. 2016, pages. 2174

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Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

• Authors : Garcia-Moreno, Hector; Langbehn, Douglas R; Abiona, Adesoji

Subjects: NEUROLOGICAL disorders; XERODERMA pigmentosum; CEREBELLAR ataxiaUNITED Kingdom

• Source: Brain: A Journal of Neurology; Dec2023, Vol. 146 Issue 12, p5044-5059, 16p

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The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis.

• Authors : Cassidy, Elizabeth; Naylor, Sandra; Reynolds, Frances

Subjects: CEREBELLAR ataxia; EXERCISE; HOME care servicesUNITED Kingdom

• Source: Disability & Rehabilitation; Apr2018, Vol. 40 Issue 8, p894-904, 11p

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Reports on Stiff Person Syndrome from Cooper University Hospital Provide New Insights (Anti-glutamate Dehydrogenase Antibody Positive Cerebellar Ataxia and Stiff Person Syndrome Responding to Dual Treatment with Steroids and Intravenous ...)

• Source: Mental Health Weekly Digest. August 26, 2019, 684.

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RFC1 expansions are a common cause of idiopathic sensory neuropathy.

• Authors : Currò, Riccardo; Salvalaggio, Alessandro; Tozza, Stefano

Subjects: POLYNEUROPATHIES; NEUROPATHY; SENSORY gangliaITALY; UNITED Kingdom

• Source: Brain: A Journal of Neurology; May2021, Vol. 144 Issue 5, p1542-1550, 9p

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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

• Authors : Balint, B.; Charlesworth, G.; Stamelou, M.

Subjects: RECESSIVE genes; CEREBELLUM degeneration; SPINOCEREBELLAR ataxiaUNITED Kingdom

• Source: European Journal of Neurology; Sep2019, Vol. 26 Issue 9, p1240-1243, 4p, 1 Black and White Photograph

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