Last Updated: 09/26/2026
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Found 57 publications
Heterogenous Neuropathology in a Pedigree with RAB39B-Related Parkinson's Disease.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 04, 2025
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
Joint exome and metabolome analysis in individuals with dyslexia: Evidence for associated dysregulations of olfactory perception and autoimmune functions.
Journal: bioRxiv : the preprint server for biology
Published: July 15, 2024
Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.
Journal: Movement disorders clinical practice
Published: December 05, 2023
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Journal: Brain : a journal of neurology
Published: September 08, 2023
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Journal: Journal of the neurological sciences
Published: April 23, 2023
A data-fusion approach to identifying developmental dyslexia from multi-omics datasets.
Journal: bioRxiv : the preprint server for biology
Published: March 13, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Journal: bioRxiv : the preprint server for biology
Published: February 17, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Journal: Neurology. Genetics
Published: February 03, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Journal: Annals of clinical and translational neurology
Published: January 30, 2023
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
Journal: Science signaling
Published: September 27, 2022
Last Updated: 09/26/2026