Hereditary Quadriceps Myopathy
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Myopathy of the Quadriceps Muscles
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The Oculopharyngeal Syndrome
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Neuro CPC of MGH
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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A 41-Year-Old Man with Steroid-Responsive Hemiparesis
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A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
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A 35-Year-Old Patient with Rapidly Progressive Ascending Weakness Leading to Loss of Brainstem Reflexes
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Niemann-Pick Type C Disease
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Polymyalgia Rheumatica
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Progressive Quadriparesis and Falls in a 66-Year-Old Man With Longstanding Human Immunodeficiency Virus
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Mucormycosis
NEJM 394:684-698, Kontoyiannia,D.P. & Walsh, T.J., 2026
MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions, A Case Report and Literature Review
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Niemann-Pick Disease Type C
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Melas Syndrome
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Calcitonin Gene-Related Peptide-Targeted Therapy in Migraine: Current Role and Future Perspectives
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Severe Myotonic Crisis Resembling Malignant Hyperthermia
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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"Innumerable" lesion burden on brain MRI - a diagnostic approach
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A 56-Year-Old Woman with Right-Sided Weakness and Recurrent MRI Lesions
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A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
Neurol 105:e214299, Gutierrez-Abizuri,C.,et al, 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
Neurol 105:e214429, Trentadue,T.,et al, 2025
Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
Neurol 106:e214464, Chen,Y.,et al, 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
A 59-Year-Old Man with Progressive Dysarthria and Gait Instability
Neurol 104:e213729, Shen,D.,et al, 2025
Upadacitinib - An Up-and-Comer for Treatment of Giant-Cell Arteritis
NEJM 392:2062-2064, Koster,M.J. & Warrington,K.J., 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Disease-Modifying, Neuroprotective Effect of N-Acetyl-L-Leucine in Adult and Pediatric Patients with Neimann-Pick Disease Type C
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
A 58-Year-Old Man With Resting tremor, Bradykinesia, and Distal Numbness
Neurol 105:e214183, Costa,R., et al, 2025
New Treatments for Migraine: CGRP Monoclonal Antibodies, Gepants, and Ditans
BMJ 390:e085564, Burch, R. & Rittenberg, E., 2025
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025