A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Diagnosis and Management of Pituitary Tumours
BMJ 308:1087-1091, Levy,A.&Lightman,S.L., 1994
Evidence of a Congenital Midline Brain Anomaly in Pituitary Dwarfs:A Magnetic Resonance Imaging Study in 101 Patients
Pediatrics 93:409-416, Triulzi,F.,et al, 1994
Iatrogenic Cerebral Amyloid Angiopaty Post Neurosurgery:Frequency, Clinical Profile, Radiological Features, and Outcome
Stroke 54:1214-1223, 1224, Kaushik,K.,et al, 2023
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A 41-year-old man with Thunderclap Headache
Neurol 91:e87-e91, Grossman, S.et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
Neurol 83:780-786, Poidvin, a.,et al, 2014
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:1158-1192, Saposnik,G.,et al, 2011
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
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 Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Risk Factors of Cerebral Vein and Sinus Thrombosis
Front Neurol Neurosci 23:23-54, de Freitas, G.R. & Bogousslavsky, J., 2008
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
Acromegaly
NEJM 355:2558-2573, Melmed,S., 2006
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Mutations in the Molybdenum Cofactor Biosynthetic Genes MOCS1, MOCS2, and GEPH
Hum Mutat 21:569-576, Reiss,J. &Johnson,J.L., 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
14-3-3 Protein Cerebrspinal Fluid Detection in Human Growth Hormone-Treated Creutzfeldt-Jakob Disease Patients
Ann Neurol 49:257-260, Brandel,J.,et al, 2001
Long-term Treatment of Acromegaly With Pegvisomant, a Growth Hormone Receptor Antagonist
Lancet 358:1754-1759,1743, van der Lely,A.J.,et al, 2001
Acromegaly Caused by Secretion of Growth Hormone by a Non-Hodgkin's Lymphoma
NEJM 342:1871-1876, Beuschlein,F.,et al, 2000
Iatrogenic Creutzfeldt-Jakob Disease at the Millenium
Neurol 55:1075-1081, Brown,P.,et al, 2000
Treatment of Acromegaly With the Growth Hormone-Receptor Antagonist Pegvisomant
NEJM 342:1171-1177,1210, Trainer,P.J.,et al, 2000
Pituitary Surgery for Acromegaly, Should be Done by Specialists
BMJ 319:588-589, Clayton,R.N.,et al, 1999
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
High Risk of Cerebral-Vein Thromb in Carriers of Prothrombin-Gene Mutation & Users of Oral Contracept
NEJM 338:1793-1797, 18401998., Martinelli,I.,et al, 1998
A Randomized, Double-Blind, Placebo-Controlled Study of Growth Hormone in the Treatment of Fibromyalgia
Am J Med 104:227-231, Bennett,R.M.,et al, 1998
Risk of Cerebral Sinus Thrombosis in Oral Contraceptive Users Who Are Carriers of Hered Prothrombotic Cond
BMJ 316:589-592, deBruijn,S.F.T.M.,et al, 1998
Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
Arch Neurol 54:251-254, Spranger,M.,et al, 1997
Long-Term Octreotide Therapy in Growth Hormone-Secreting Pituitary Adenomas:Evaluation with Serial MR
AJNR 18:765-772, Lundin,P.,et al, 1997
Distinction of Idiopathic Parkinson's Dis from Multi-Syst Atrophy by Stim of Growth-Hormone Release w Clonidine
Lancet 349:1877-1881, Kimber,J.R.,et al, 1997
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
Cerebral Venous Sinus Thrombosis Associated with Factor V Gene Mutation
JNNP 61:204-205, Kimber,T.,et al, 1996