Recurrent Cerebral Ischemia During Pregnancies
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Risk of Brain Infarction in Familial Hypercholesterolemia
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Phosphorylase Deficiency
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Thyrotoxic Periodic Paralysis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Extending the KCNQ2 encephalopathy Spectrum
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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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
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Extension of the Clinical Spectrum of Danon Disease
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Seizures on Hearing the Alarm Clock
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia
Stroke 32:877-882, Maher,C.O.,et al, 2001
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Stroke 32:1563-1566, Arquizan,C.,et al, 2001
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
Clin Inf Dis 30:336-341, Lamas, C.C. & Eykyn, S.J., 2000
Adult-Onset MELAS Presenting as Herpes Encephalitis
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Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
Middle Cerebral Artery Main Stem Thrombosis in Two Siblings with Familial Thrombotic Thrombocytopenic Purpura
Neurol 50:1157-1160, Kelly,P.J.,et al, 1998
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,et al, 1998
Sneddon's Syndrome:Neuro-Ophthalmologic Manifestations in a Possible Autosomal Recessive Pattern
Neurol 51:1185-1187, Rehany,U.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
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Stroke 25:1599-1604, Graffagnini,C.,et al, 1994
Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994
Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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