Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Mitochondrial DNA Polymerase-y and Human Disease
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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The Limbic-Girdle Muscular Dystrophies
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The Floppy Infant: Evaluation of Hypotonia
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Clinical and Genetic Aspects of Distal Myopathies
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Facioscapulohumeral Muscular Dystrophy in Early Childhood
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The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
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Hopkins Syndrome
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An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Antibody-Mediated Encephalitis
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Glutamate Receptor D2 Serum Antibodies in Pediatric Opsoclonus Myoclonus Ataxia Syndrome
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Child with Delayed Motor Milestones and Ptosis
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Neuroimaging Changes in Menkes Disease, Part 1
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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
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Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
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MRI Findings in Children with Acute Flaccid Paralysis and Cranial Nerve Dysfunction Occurring during the 2014 Enterovirus D68 Outbreak
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Acute Flaccid Myelitis of Unknown Etiology in California 2012-2015
JAMA 314:2663-2671, Van Haren, K.,et al, 2015
Enterovirus Vaccines for an Emerging Cause of Brain-Stem Encephalitis
NEJM 370:792-794, McMinn, P.C., 2014
Transient Cervical Cord Swelling in Monomelic Amyotrophy
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Subacute Sclerosing Panencephalitis
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Diagnosis of Lambert-Eaton Myasthenic Syndrome in Children
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The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
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Subacute Sclerosing Panencephalitis
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Transition to Adult Care for Children with Chronic Neurological Disorders
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Childhood Posterior Circulation Arterial Ischemic Stroke
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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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Spinal Muscular Atrophy
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection
JAMA 294:2188-2194, Keren,R.,et al, 2005
Cerebral Sinovenous Thrombosis in Children
NEJM 345:417-423, DeVeber,G.,et al, 2001
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Neurologic Complications in Children with Enterovirus 71 Infection
NEJM 341:936-942, Huang,C-C.,et al, 1999
Mucolipidosis Type IV; Characteristic MRI Findings
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