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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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Recurrent Cerebral Ischemia During Pregnancies
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A 54-year-old man with Dyspnea and Muscle Weakness
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Ehlers-Danlos Syndromes
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A 42-year-old man with unilateral leg weakness
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A Neonate with Micrognathia and Hypotonia
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A Young Man with Progressive Vision and Hearing Loss
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Genetic Aspects of Alzheimer Disease
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Extension of the Clinical Spectrum of Danon Disease
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Aspects of Distal Myopathies
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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Cardiac Dysfunction in Neuromuscular Diseases
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Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Inclusion Body Myositis in Twins
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Bent Spine Syndrome
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Adult-Onset MELAS
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Niemann-Pick Disease Type C from Bench to Bedside
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
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