Results 91 to 100 of about 2,519,053 (161)

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, Volume 41, Issue 9, Page 2349-2356, September 2026.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Integrative Multi‐Omics Profiling Reveals Age‐Associated Genomic and Tumor Microenvironmental Heterogeneity in Colorectal Cancer

MedComm – Oncology, Volume 5, Issue 3, September 2026.
Integrated multi‐omics analysis defines an age‐resolved molecular–immune framework in colorectal cancer. Early‐onset tumors show reduced APC/KRAS alterations, frequent SMAD4 disruption, enriched PTPRK–RSPO3 fusions, and increased CD4+ memory T cells and mast cells with greater checkpoint responsiveness.
Yang Guo, Yajiao He, Tao Zhou, Haidong Zhang, Fei Liao, Yuelan Wang, Hai‐Ning Chen, Li‐Bin Huang, Xuyang Xia, Yiqi Deng, Jing Wu, Siyu Yang, Heng Xu, Zong‐Guang Zhou, Yang Shu, Lie Yang   +15 more
wiley   +1 more source

Pseudo‐Dystonic Gait in a Preschool Child: Foot Posturing Contralateral to a Cuboid Fracture

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2268-2270, September 2026.
Allison J. Chirigos, Donald L. Gilbert, Barbara E. Hallinan, Jes Marchbank, Alberto J. Espay   +4 more
wiley   +1 more source

Molecular study of CACNA1A, ATP1A2, and SCN1A genes and its association with the migraine disease in Iraq

Ibom Medical Journal
Background: Migraine is a frequent and debilitating neurological ailment characterized by way of excessive complications and sensory disturbances.
Khudair S, Al Rasheed IA, Ibrahim TK, Saleh TH, Al-Rubaii BA   +4 more
doaj   +1 more source

Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene. [PDF]

Mol Neurobiol, 2020
Gawel K, Turski WA, van der Ent W, Mathai BJ, Kirstein-Smardzewska KJ, Simonsen A, Esguerra CV.   +6 more
europepmc   +1 more source

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, Volume 41, Issue 9, Page 2529-2531, September 2026.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 more
wiley   +1 more source

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

, 2008
The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM (n = 105) were identified in a nationwide search in the Danish population.
Stefansson, H., Fasquel, A.C., Olesen, J., Gulcher, J., Thomsen, L.L., Oestergaard, E., Stefansson, K., Bjornsson, A.   +7 more
core   +1 more source

A novel mutation of CACNA1A gene in episodic ataxia type 2 family in Korea

, 2014
Episodic ataxia type 2 (EA-2) is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. EA-2 is known to be caused by mutations of the CACNA1A gene on chromosome 19q13.
Nurul Nadiah Zainal Abidin
core  

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

, 2009
The CACNA1A gene codes for the alpha(1A) pore-forming subunit of Ca(2+) voltage-gated Cav2.1 channels. CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6.
Veneziano, L, Guida, S, Boccone, L, Iodice, C, Frontali, M, Tarantino, P, Mantuano, E, Bernard, P, Hisama, FM, Carrera, P, Frontali, M., IODICE, CARLA   +11 more
core   +1 more source

Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk

Frontiers in Neurology
IntroductionThe CACNA1A gene encodes the pore-forming subunit of the Cav2.1 (P/Q type) neuronal calcium channel and pathogenic variants cause a variety of neurological disorders including episodic and congenital ataxia, familial hemiplegic migraine ...
Simone Pelizzari, Marta Campiglio, Yousra El Ghaleb, Tatjana Bierhals, Maja Hempel, Jonas Denecke, Bernhard E. Flucher, Jessika Johannsen   +7 more
doaj   +1 more source