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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
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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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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RNF213 Polymorphisms in Intracranial Artery Dissection
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Cavernous Maliformations of the Central Nervous System
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Ocular Myasthenia Gravis, Central Ocular Motor Signs and Unilateral Visual Loss Caused by the Great Neuro-Ophthalmologic Impersonator
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Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Vascular Malformations of the Central Nervous System
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Wall-Eyed Bilateral Internuclear Ophthalmoplegia Variant Syndrome Caused by Isolated Left Thalamic Infarction
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasis for Brain Vascular Malformations
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Genome Sequencing in the NICU and PICU is Here to Stay
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Dramatic Response to Topiramate in Acquired Pendular Nystagmus From Multiple Sclerosis
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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A Young Man With Subacute Onset of Spastic Paraparesis
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Neuroimaging Features of Biotinidase Deficiency
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Current and Emerging Issues in Wilsons Disease
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Trial of Botulinum Toxin for Isolated or Essential Head Tremor
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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