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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Genetic Markers for Neurofibromatosis
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MELAS Syndrome Involving a Mother & Two Children
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Central Core Disease, Clinical Features in 13 Patients
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Preventive Screening for Fragile X Syndrome
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Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
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Phosphorylase Deficiency
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Recognising & Preventing Duchenne Muscular Dystrophy
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Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
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Distal Myopathy, Histochemical & Ultrastructural Studies
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Fragile X Chromosome & X-Linked Mental Retardation
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Biochemical Genetics Of Neurologic Disease
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A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
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Quadriceps Myopathy in Two Brothers
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Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
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Systemic Membrane Defect in the Proximal Muscular Dystrophies
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Myopathy of the Quadriceps Muscles
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025