Multivessel Cerebral Occlusion in Noonan Syndrome
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A 9-Year-Old Girl with CNS Immune Dysregulation
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Hydrocephalus in Children
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Molybdenum Cofactor Deficiency
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Sturge-Weber Syndrome
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The Limbic-Girdle Muscular Dystrophies
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Sturge-Weber Syndrome
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Tuberous Sclerosis
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Stroke in Williams Syndrome
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Cerebrovascular Complications of Fabry's Disease
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Familial Occurrence of Cluster Headache
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Familial Cluster Headache:Occurrence in Three Generations
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Angelman Syndrome: Clinical Profile
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The First Report of Cluster Headache in Identical Twins
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Two Cases of Van Buchem's Disease
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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