Results 211 to 220 of about 80,232 (259)

Ciliary Defects in Inherited Retinal Diseases

Advanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
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

A Digital Anatomical Atlas of the Human Cerebellum at Subfolial Resolution

Human Brain Mapping, Volume 47, Issue 4, March 2026.
We present a digital atlas of the human cerebellum at subfolial resolution with both volumetric and surface representations, offering an anatomical ground‐truth reference at unprecedented granularity. ABSTRACT Interest in the cerebellum has surged with the emerging consensus that it supports diverse functions that are topographically arranged across ...
John G. Samuelsson, Jeremy D. Schmahmann, Martin I. Sereno, Bruce Rosen, Matti S. Hämäläinen   +4 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

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

First Application of a Novel Brain Template: Motor Training Improves Cortico-cerebellar Connectivity in Cerebellar Ataxia. [PDF]

J Neurosci
Nettekoven C, Draganova R, Steiner KM, Goericke SL, Deistung A, Konczak J, Timmann D.   +6 more
europepmc   +1 more source

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +1 more source

Dopa-responsive parkinsonism without cerebellar ataxia in spinocerebellar ataxia 6. [PDF]

Clin Park Relat Disord
Yoshida S, Takahashi T, Suzuki N, Tobita M.   +3 more
europepmc   +1 more source

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia. [PDF]

Cerebellum
Tsokkos T, Christodoulou K, Votsi C, Georghiou A, Christofides A, Constantinou A, Zamba-Papanicolaou E.   +6 more
europepmc   +1 more source