Results 161 to 170 of about 114,557 (289)
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus [PDF]
, 2002 BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions.
Alonso, I +15 more
core
Frontiers in Neurology, 2017 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that occurs as a consequence of abnormal CAG expansions in the ATXN2 gene.
L. Velázquez-Pérez +2 more
semanticscholar +1 more source
Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy
Brain Pathology, Volume 35, Issue 6, November 2025.Purkinje cell (PC) degeneration is localized to posterior lobules in the cerebellum, and rescue of survival motor neuron protein expression levels in motor neurons does not ameliorate this effect. Representative images of sagittal cerebellar sections stained with anti‐calbindin in the vermis and hemisphere at P12 for wild type, ChATCre+ rescue (Rescue),
Nicholas C. Cottam +9 more
wiley +1 more source
Liver International, Volume 45, Issue 11, November 2025.ABSTRACT Background and Aims Recurrent acute liver failure (RALF) in children is defined as two or more episodes of acute liver failure with complete recovery in between. Several genetic mutations are associated with this condition, including NBAS, RINT1, LARS1 and SCYL1.
Harry Sutton +5 more
wiley +1 more source
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients
, 2020 Walter Oleschko Arruda +7 more
openalex +2 more sources
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes [PDF]
, 2014 Sophie Tézénas du Montcel +31 more
openalex +1 more source
Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia [PDF]
, 2008 Speech variability in groups of speakers with Parkinson's disease (PD) and with Friedreich's ataxia was compared with healthy controls. Speakers repeated the same phrase 20 times at one of two rates (fast or habitual).
Anderson, Andrew +2 more
core
Interview with Huda Zoghbi [PDF]
, 2016 An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor ...
Zoghbi, Huda, MD
core +1 more source
Molecular Genetics of Spinocerebellar Ataxia Type 8 (SCA8) [PDF]
, 2005 Mousumi Mutsuddi, Ilaria Rebay
openalex +1 more source