Results 41 to 50 of about 11,829 (290)
Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control
FEBS Open Bio, EarlyView.Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Annals of Clinical and Translational Neurology, 2021 Background Single‐center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs).
Herminia Argente‐Escrig +8 more
doaj +1 more source
Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia
Journal of Integrative NeuroscienceThe clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins ...
Mario Manto, Hiroshi Mitoma
openaire +3 more sources
Movement Disorders in Spinocerebellar Ataxias
, 2011 Universidade Federal de São Paulo, Dept Neurol & Neurosurg, Div Gen Neurol & Ataxias, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, Div Gen Neurol & Ataxias, São Paulo, BrazilWeb of ...
Pedroso, Jose Luiz [UNIFESP] +7 more
core +1 more source
DNA repair in trinucleotide repeat ataxias [PDF]
, 2018 The inherited cerebellar ataxias comprise of a genetic heterogeneous group of disorders. Pathogenic expansions of cytosine-adenine-guanine (CAG) encoding polyglutamine tracts account for the largest proportion of autosomal dominant cerebellar ataxias ...
Wai Yan Yau +9 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye +11 more
wiley +1 more source
Pediatric Neurology Briefs, 1987 Harding AE at the Institute of Neurology, London, author of the Hereditary Ataxias and Related Disorders (Edinburgh, Churchill Livingstone, 1984) reviews the classification, causes, clinical characteristics and treatment of degenerative ataxias.
J Gordon Millichap
doaj +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
, 2022 Trabajo presentado en Ataxias, one world, celebrado en modalidad virtual el 25 de septiembre de ...
Sánchez-Alcázar, José Antonio
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