Acute Intermittent Porphyria:Clinicopathologic Correlation
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Neurologic Crises in Hereditary Tyrosinemia
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Clin. Path. Conference
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Neonatal Seizures
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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A 28-year-old Woman with Lower Extremity Spasticity and Microcytic Anemia
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Molybdenum Cofactor Deficiency
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Clinicopath Conf
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Wilson Disease
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Homing in on Wilson's Disease
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Mendelian Etiologies of Stroke
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Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
The Malignant Hyperthermia Syndrome
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Fragile X Chromosome & X-Linked Mental Retardation
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Marfan's Syndrome
NEJM 301:273, Barr,M., 1979
Diagnosis of Treatable Wilson's Disease
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Familiar Basilar Impression
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Angiokeratoma Corporis Diffusum
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