Last Updated: 09/26/2026
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Found 156 publications
Retinal Vessel Dysfunction in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: An Ultra-Widefield Fluorescein Angiography Study.
Journal: Neurology open access
Published: June 15, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.
Journal: American journal of medical genetics. Part A
Published: February 12, 2026
Anti-CD320 Autoantibodies and Central Nervous System Vitamin B12 Deficiency in Idiopathic Myelopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases.
Journal: Journal of neurology
Published: January 07, 2026
Rehabilitation of High-Level Dynamic Balance Skills in an Individual With Significant Nonprogressive Cerebellar Atrophy: Case Report.
Journal: Archives of rehabilitation research and clinical translation
Published: January 01, 2026
MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred.
Journal: Cerebellum (London, England)
Published: December 22, 2025
Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.
Journal: Rare (Amsterdam, Netherlands)
Published: November 28, 2025
Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease.
Journal: Stem cell research
Published: November 19, 2025
Selective muscle involvement quantification in late-onset Tay Sachs and Sandhoff disease using neuromuscular ultrasound imaging.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: September 30, 2025
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: September 19, 2025
Diffusion tensor imaging in Chediak Higashi Disease.
Journal: medRxiv : the preprint server for health sciences
Published: September 19, 2025
Last Updated: 09/26/2026