Results 91 to 100 of about 15,463 (269)

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Research progress of spinocerebellar ataxia type 1

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Spinocerebellar ataxia type 1 (SCA1) is a kind of autosomal dominant genetic neurodegenerative disorder. To date, the pathogenesis of SCA1 remains unclear.
Lin-wei ZHANG, Wei-hong GU
doaj  

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

PLoS ONE, 2017
BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong   +5 more
doaj   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Arquivos de Neuro-Psiquiatria
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features.
Carlos Roberto Martins Junior, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Júnior   +7 more
doaj   +1 more source

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. [PDF]

, 2008
: Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the ...
Baliko L, Bauer P, Boesch S, Depondt C, Di Donato S, du Montcel ST, Durr A, FILLA, ALESSANDRO, Globas C, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz Hubsch T, Schols L., Szymanski S, Timmann D, Van de Warrenburg BP   +19 more
core  

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

Improvement in the molecular diagnosis of Machado-Joseph disease [PDF]

, 2001
BACKGROUND: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide.
Barros, J., Costa, M., Coutinho, P., Ferro, A., Gaspar, C., Maciel, P., Rouleau, G., Rousseau, M., Santos, C., Sequeiros, J.   +9 more
core   +1 more source

A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education

Clinical Anatomy, Volume 39, Issue 4, Page 436-460, May 2026.
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley, Brooke Willoughby, Alexandra L. Webb, Natasha A. M. S. Flack, Laura Y. Whitburn   +4 more
wiley   +1 more source