Familial Autoimmune Myasthenia Gravis
Neurol 44:551-554, Bergoffen,J.,et al, 1994
Genetic Factors in Myasthenia Gravis:A Family Study
Neurol 38:38-42, Kerzin-Storrar,L.,et al, 1988
Myasthenia Gravis in Identical Twins
Neurol 36:78-80, Murphy,J.&Murphy,S.F., 1986
Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Developmental Dyslexia
Lancet 363:1451-60, Demonet,J-F.,et al, 2004
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,et al, 1998
Inherited Prothrombotic States and Ischaemic Stroke in Childhood
JNNP 65:508-511, Ganesan,V.,et al, 1998
Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
Ann Neurol 38:929-934, Bromberg,J.E.C.,et al, 1995
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
On the Inheritance of Intracranial Aneurysms
Stroke 25:2028-2037, Schievnink,W.I.,et al, 1994
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
Familial Intracranial Aneurysms, A Review
Stroke 23:1024-1030, terBerg,H.W.M.,et al, 1992
The Biology of Developmental Dyslexia
JAMA 268:912-915, Rumsey,J.M., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992