Neonatal Seizures
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Recurrent Cerebral Ischemia During Pregnancies
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Infantile Epileptic Spasms Syndrome (West Syndrome)
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Spinal Muscular Atrophy
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Metabolic Disease and Stroke: MELAS
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Migraine and Cerebral White Matter Lesions
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Prenatal Diagnosis Requests for Huntington's Disease when the Father is at Risk, and Does Not Want to Know His Genetic Status: Clinical, Legal, and Ethical Viewpoints
BMJ 326:331-333, Tassicker,R.,et al, 2003
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000
Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Advances in Molecular Analysis of Fragile X Syndrome
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Myotonic Dystrophy
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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