CT and MR Findings of Neuroacanthocytosis
J Comput Assist Tomogr 21:221-222, Okamoto,K.,et al, 1997
Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
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The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
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Cerebral Venous Thrombosis:Role of Activated Protein C Resistance and Factor V Gene Mutation
Stroke 27:1719-1720, Brey,R.L.&Coull,B.M., 1996
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Protein S Deficiency in Middle-Aged Women with Stroke
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
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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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Amyotrophic Lateral Sclerosis
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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A Teenager with Persistent Headache
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Clinical Epidemiology of Familial Sarcoidosis
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Cranial Cavernous Malformations
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Autism
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Familial Risk of Cerebral Palsy: Population Based Cohort Study
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
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Cerebral Amyloid Angiopathy
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Family Paralysis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Association Between Familial Atrial Fibrillation and Risk of New-Onset Atrial Fibrillation
JAMA 304:2263-2269, Lubitz,S.A.,et al, 2010
Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Familiality in Brain Tumors
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Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
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