The Floppy Infant: Evaluation of Hypotonia
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The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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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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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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The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Transition to Adult Care for Children with Chronic Neurological Disorders
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
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
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
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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Hopkins Syndrome
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Pediatric HIV Infection: Classification, Clinical Manifestations, and Outcome
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Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Transient Cervical Cord Swelling in Monomelic Amyotrophy
Neurol 83:e77-e79, DeGregoris, L.M. & Engel, M., 2014
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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Subacute Sclerosing Panencephalitis
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Differential Diagnosis of a Low CSF Glucose in Children and Young Adults
Neurol 81:e178-e181, Leen, W.G.,et al, 2013
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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A 23-Year-Old Man With Seizures and Visual Deficit
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Corticosteroids for Acute Bacterial Meningitis
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Epilepsy in Children
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Cerebral Vasculopathy with aneurysm Formation in HIV-infected Young Adults
Neurol 66:1121-1122, Kossorotoff,M.,et al, 2006
Cerebral MR Imaging in Uninfected Children Born to HIV-Seropositive Mothers and Perinatally Exposed to Zidovudine
AJNR 26:695-701,687, Tardieu,M.,et al, 2005
Clinical Features and Diagnosis of Primary Central Nervous System Lymphoma
Hematol Oncol Clin North Am 19:689-703, Fitzsimmons,A.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR 25:1269-1273, Sener,R.N., 2004
Diagnostic Approach in Patients with Symmetric Imaging Lesions of the Deep Gray Nuclei
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Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Evaluation and Management of Intracranial Mass Lesions in AIDS
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Cerebral Aneurysmal Arteriopathy in Childhood AIDS
Neurol 51:560-565, Dubrovsky,T.,et al, 1998
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Temporal Lobe Epilepsy in Childhood:Clin, EEG, & Neuroimag Findings & Synd Class in a Cohort with New-Onset Szres
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