Results 121 to 130 of about 395,684 (337)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Analysis of autoregulation at the level of pre-mRNA splicing of the suppressor-of-white-apricot gene in Drosophila. [PDF]
, 1994 Zuzana Zachar +4 more
openalex +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
A novel form of human neuropsin, a brain‐related serine protease, is generated by alternative splicing and is expressed preferentially in human adult brain [PDF]
, 1999 Shinichi Mitsui +4 more
openalex +1 more source
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants [PDF]
, 2021 Elena Bueno‐Martínez +14 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective This study aimed to determine if program format (in‐person, virtual, or hybrid) results in differences in 3‐month outcomes of pain, function, quality of life, self‐efficacy, and chair stands in a hip/knee osteoarthritis‐management program. Methods A secondary analysis of the Good Life with osteoArthritis in Denmark (GLA:D) Canada database was
Jill Van Damme +7 more
wiley +1 more source
Changes of the Alternative Splicing Variants of Human Telomerase Reverse Transcriptase during Gastric Carcinogenesis [PDF]
, 2009 Jinheng Xu +4 more
openalex +1 more source