Hopkins Syndrome
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Transient Cervical Cord Swelling in Monomelic Amyotrophy
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Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
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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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Acute Flaccid Myelitis of Unknown Etiology in California 2012-2015
JAMA 314:2663-2671, Van Haren, K.,et al, 2015
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 Floppy Infant: Evaluation of Hypotonia
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Spinal Muscular Atrophy
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Clinical and Genetic Aspects of Distal Myopathies
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Clinical Uses of Intravenous Immunoglobulins
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A 17-Year-Old Girl with Progressive Cognitive Impairment
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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The Limbic-Girdle Muscular Dystrophies
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Huntingtons Disease
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Juvenile Huntington Disease:CT and MR Features
AJNR 16:1405-1412, Ho,V.B.,et al, 1995
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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Niemann-Pick Type C Disease
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
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Bobble-Head Doll Syndrome in a Child
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Neuroimaging Findings in Children and Young Adults with Neurotoxicity after CAR T-Cell Therapy for B-Cell Malignancies
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
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Clinical Features, Diagnosis and Management of Klinefelter Syndrome
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Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
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A Teenager With Right-Sides Headache and Periorbital Changes
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis
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Neuroimaging Findings in Parechovirus Encephalitis: A Case Series of Pediatric Patients
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Body Mass Index in 1.9 Million Adolescents and Stroke in Young Adulthood
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Focal Cerebral Arteriopathy of Childhood, Clinical and Imaging Correlates
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Complex Ataxia
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A 14-Year-Old Boy with Acute Weakness, Parethesias, and Headache
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A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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Bobblehead-Doll Syndrome
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Characteristic Head Jerks in Congenital Oculomotor Apraxia due to Joubert Syndrome
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Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN
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