Niemann-Pick Disease Type C
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Genome Sequencing in the NICU and PICU is Here to Stay
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Niemann-Pick Type C Disease
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A 26-Year-OldWoman with Headache and Eosinophilia
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
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A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
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A 13-Year-Old Boy with Subacute-Onset Spastic Gait
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Somatic Mutations in Cerebral Cortical Malformations
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