Results 101 to 110 of about 15,463 (269)

Noted tension headache, anxiety, and depression in a Chinese patient with spinocerebellar ataxia, autosomal recessive 10 caused by a novel anoctamin 10 mutation [PDF]

, 2022
Xiaoxi Ma, Keliang Chen, Zhenxu Xiao, Qianhua Zhao   +3 more
openalex   +1 more source

Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley   +1 more source

Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models

Biomedicines
The inaccessibility of human cerebellar tissue and the complexity of its development have historically hindered the study of cerebellar ataxias, a genetically diverse group of neurodegenerative disorders.
Michela Giacich, Valentina Naef, Filippo Maria Santorelli, Devid Damiani   +3 more
doaj   +1 more source

Spinocerebellar ataxia-21 in a Turkish child

Annals of Indian Academy of Neurology, 2018
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral ...
Faruk Incecik, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan   +3 more
doaj   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements, 2017
Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ...
Shi-Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher ‎ M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikramq G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo   +19 more
doaj   +1 more source

Does modulation of the endocannabinoid system have potential therapeutic utility in cerebellar ataxia? [PDF]

, 2016
Cerebellar ataxias represent a spectrum of disorders which are, however, linked by common symptoms of motor incoordination and are typically associated with deficient in Purkinje cell firing activity and, often, degeneration. Cerebellar ataxias currently
Stephens, G. J.
core   +1 more source

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, Volume 248, Issue 5, Page 784-805, May 2026.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

Review for "Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta-analysis"

, 2021
Luis Enrique Almaguer Mederos
openalex   +1 more source

Epigenetic analyses suggest different pathways during pregnancy for development of type 1 diabetes in children with high versus low‐neutral human leukocyte antigen‐risk

Journal of Internal Medicine, Volume 299, Issue 5, Page 570-586, May 2026.
Abstract Background and objective The development of Type 1 diabetes (T1D) is shaped by genetic predisposition and epigenetic regulation. Human leukocyte antigen (HLA) risk alleles are major genetic determinants, but the epigenetic landscape in relation to disease onset remains unclear.
Shamila D. Alipoor, Angelica Ahrens, Julia Åkesson, Thomas Hillerton, Mika Gustafsson, Maria Lerm, Johnny Ludvigsson   +6 more
wiley   +1 more source