Results 231 to 240 of about 81,081 (302)

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia. [PDF]

Brain Commun
Yau WY, Sullivan R, O'Connor E, Pellerin D, Parkinson MH, Giunti P, Dicaire MJ, Danzi MC, Züchner S, Brais B, Wood NW, Houlden H, Vandrovcova J.   +12 more
europepmc   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

A Rare Disease and a Novel Variant in an Indian patient with Cerebellar Ataxia: A Case of Gordon Holmes Syndrome. [PDF]

Ann Indian Acad Neurol
Suhas VP, Sukrutha R, Prasad C, Arunachal G, Mahale R, Padmanabha H, Pavagada M, Mailankody P.   +7 more
europepmc   +1 more source

Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Primary mitochondrial diseases frequently affect the central nervous system, yet the extent, distribution and progression of white matter hyperintensities (WMHs) remain insufficiently characterised, particularly in terms of quantitative volumetrics and longitudinal progression.
Nora Mickelsson, Jussi Hirvonen, Mika H. Martikainen   +2 more
wiley   +1 more source

Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors. [PDF]

Ann Indian Acad Neurol
Subramanian VK, Gomathy SB, Sugan SS, Sugumaran R, Narayan SK.   +4 more
europepmc   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

IMU-based segmental root mean square analysis of gait in individuals with cerebellar ataxia: a pilot cross-sectional study. [PDF]

Sci Rep
Mendonca J, Joshua AM, Shetty S, Chemmangat K, Krishnan S, Kumar KV, Misri Z, Pai R, Pai S.   +8 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features. [PDF]

J Mov Disord
Sahak AMA, Tan AH, Ramli N, Tay YW, Lit LC, Chua JP, La Piana R, Pellerin D, Lim SY.   +8 more
europepmc   +1 more source

Neurological Disorders in Dogs: A Retrospective Analysis of Prevalence, Aetiology, Lesion Locations, and Regional Variations in Northeastern Iran

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
This retrospective study evaluated 422 dogs with neurological disorders among 9131 canine referrals over 8.5 years in northeastern Iran. Infectious diseases, particularly canine distemper (33.2%), were the leading cause, followed by trauma and idiopathic conditions. The prosencephalon was the most frequently affected anatomical region.
Ali Behrouzian, Ali Asghar Sarchahi, Hadi Jabbari Noghabi   +2 more
wiley   +1 more source