A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
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A Clinical Study of Noonan Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Aicardi-Gouti�res Syndrome
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Amyotrophic Lateral Sclerosis
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Recurrent Cerebral Ischemia During Pregnancies
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A 54-year-old man with Dyspnea and Muscle Weakness
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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A 60-year-old man with arm weakness and numbness
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A 42-year-old man with unilateral leg weakness
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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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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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
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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