A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Hereditary Hemorrhagic Telangiectasia
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
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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
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 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
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Complex Ataxia
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Pediatric Leigh Syndrome
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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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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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014