Last Updated: 09/26/2026
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Found 96 publications
Cognitive impairment as a manifestation of SPG7: case report.
Journal: Neurocase
Published: September 06, 2026
Comprehensive Phenotype and Treatment Description of Mitochondrial Diabetes: Insights From a Large Cohort Study.
Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Published: September 22, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Journal: Epilepsia
Published: December 03, 2024
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.
Journal: Neurology. Genetics
Published: November 13, 2024
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report.
Journal: Neurology. Genetics
Published: June 24, 2024
SOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?
Journal: American journal of medical genetics. Part A
Published: May 28, 2024
CAD-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment.
Journal: Journal of child neurology
Published: May 22, 2024
Multiple sclerosis in Somali Americans: Nature or nurture?
Journal: Multiple sclerosis and related disorders
Published: April 23, 2024
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Journal: Genetics in medicine open
Published: April 06, 2024
Last Updated: 09/26/2026