Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Is Patent Foramen Ovale a Family Trait?
Stroke 32:1563-1566, Arquizan,C.,et al, 2001
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,et al, 1998
Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Association Between Familial Atrial Fibrillation and Risk of New-Onset Atrial Fibrillation
JAMA 304:2263-2269, Lubitz,S.A.,et al, 2010
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
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
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
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
Recurrent Orbital Myositis,Report of a Familial Incidence
Arch Neurol 56:1407-1409, Maurer,I.&Zierz,S., 1999
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Electroencephalography Laboratory Diagnosis of Prolonged QT Interval
Ann Neurol 28:387-390, Gospe,S.M.&Gabor,A.J., 1990
Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989
Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
Arch Neurol 45:1004-1008, Schwankhaus,J.D.,et al, 1988
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
A Surgical Approach To The Treatment Of Fetal Hydrocephalus
NEJM 306:1320-1325, Clewell,W.H.,et al, 1982
Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
NEJM 305:955, Clewell,W.H.,et al, 1981