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Duchenne Muscular Dystrophy
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The Nondystrophic Myotonias
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
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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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
The Spectrum of Fragile X Disorders
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Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Amyotrophic Lateral Sclerosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Alzheimers Disease
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Genetics of Cluster Headache Takes a Leap
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Complex Ataxia
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Muscular Dystrophies
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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An Unusual Fundus Finding in a Teenage Girl
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Hydrocephalus in Children
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Autism
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Parkinson Disease Subtypes
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Sturge-Weber Syndrome
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Genomewide Association Studies of Stroke
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Autism
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Decoding Cryptogenic Cardioembolism
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A Genetic Risk Factor for Periodic Limb Movements in Sleep
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