HETEROKARYON INCOMPATIBILITY GENES IN NEUROSPORA CRASSA DETECTED USING DUPLICATION-PRODUCING CHROMOSOME REARRANGEMENTS [PDF]
, 1975 O. M. Mylyk
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The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
THE USE OF DUPLICATION-GENERATING REARRANGEMENTS FOR STUDYING HETEROKARYON INCOMPATIBILITY GENES IN NEUROSPORA [PDF]
, 1975 David D. Perkins
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INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
INFLUENCE OF GENE DUPLICATION AND X-INACTIVATION ON MOUSE MITOCHONDRIAL MALIC ENZYME ACTIVITY AND ELECTROPHORETIC PATTERNS [PDF]
, 1977 Eva M. Eicher, Douglas L. Coleman
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Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
EVIDENCE FOR RECENT DUPLICATIONS AMONG CERTAIN GAMMA GLOBULIN HEAVY CHAIN GENES [PDF]
, 1971 J. B. Natvig +2 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source