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Detection of a Varient Protein in Hair:New Diagnostic Method in Portuguese Type Familial Amyloid Polyneuropathy
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Molecular Genetics of Amyloid Neuropathy in Europe
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Mendelian Etiologies of Stroke
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Disorders of the Autonomic Nervous System:Part 1. Pathophysiology & Clinical Features
Ann Neurol 21:419-430, McLeod,J.G.&Tuck,R.R., 1987
Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Periodic Meningitis & Familial Mediterranean Fever
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Famillial Carpal Tunnel Syndrome
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Scalloped Pupils in Familial Amyloidosis
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Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
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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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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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 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Safety and Efficacy of Staged, Bilateral Focused Ultrasound Thalamotomy in Essential Tremor, An Open-Label Clinical Trial
JAMA Neurol 81:939-946, Kaplitt,M.G.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
Donanemab in Early Symptomatic Alzheimer Disease, The TRAILBLAZER-ALZ 2 Randomized Clinical Trial
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Blook Transfusion and Brain Amyloidosis, Should We Be Worried?
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
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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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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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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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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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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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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