Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21 [PDF]
, 2023 Hasan M Isa +3 more
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Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2
Annals of Clinical and Translational Neurology, 2018 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban‐German research collaboration, we aimed to characterize atrophy patterns and associations ...
K. Reetz +11 more
semanticscholar +1 more source
Preservation of Autophagy May Be a Mechanism Behind Healthy Aging
Aging Cell, EarlyView.Using CD4+ T cells from pairs of young and old healthy human donors, we found that autophagy in the older donor cells did not decline with aging suggesting a compensatory enhanced autophagic efficiency of human CD4+ T cells with age, which may be an adaptive mechanism behind healthy aging.
Arsun Bektas +6 more
wiley +1 more source
Otoneurological Abnormalities in Patients with Friedreich's Ataxia
International Archives of Otorhinolaryngology, 2017 Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim +6 more
doaj +1 more source
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]
, 2012 Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker +41 more
core +1 more source
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37
Brain : a journal of neurology, 2018 The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia,
Marc Corral-Juan +14 more
semanticscholar +1 more source
British Journal of Pharmacology, EarlyView.Background and Purpose Riluzole, approved for amyotrophic lateral sclerosis (ALS), has a glutamate‐modulating profile favourable for mitigating opioid addiction. It reduces neuronal glutamate release and enhances glutamate reuptake, offering advantages over agents that only increase glutamate reuptake.
Ewa Galaj +7 more
wiley +1 more source
Correction to: Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study [PDF]
, 2021 Roderick P.P.W.M. Maas +5 more
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Developmental Medicine &Child Neurology, EarlyView.In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source
Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study
Cell Transplantation, 2017 Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai +9 more
doaj +1 more source