Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014
Polymyalgia Rheumatica
Lancet 381:63-72, Kermani, T. & Washington, K., 2013
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Topographic Location of Acute Pontine Infarction is Associated with the Development of Progressive Motor Deficits
Stroke 43:708-713, Oh,S.,et al, 2012
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
Glucosamine and the Ongoing Enigma of Chronic Low Back Pain
JAMA 304:93-94, 114, Avins,A.L., 2010
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
A Fisherman Who Could Not Row
Lancet 373:432, Das,A.,et al, 2009
Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Polymyalgia Rheumatica
BMJ 336:765-769, Michet,C.J. &Matteson,E.L., 2008
Polymyalgia Rheumatica and Giant-Cell Arteritis
Lancet 372:234-245, Salvarani,C.,et al., 2008
Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Stiff-Person Syndrome
The Neurologist 10:131-137, Murinson,B.B., 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
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
Arch Neurol 59:1395-1402, Haller,R.G.&Vissing,J., 2002
Lacunar Stroke Is the Major Cause of Progressive Motor Deficits
Stroke 33:1510-1516,1443, Steinke,W. &Ley,S.C., 2002
Clinicopath Conf, Strychnine Poisoning, Case 12-2001
NEJM 344:1232-1239, , 2001
Neuromuscular Findings in Thyroid Dysfunction: A Prospective Clinical and Electrodiagnostic Study
JNNP 68:750-755, Duyff,R.F. et al, 2000
A 44-Year-Old Woman with Difficulty Walking
JAMA 284:2632-2639, Iezzoni,L.I., 2000
The Clinical Spectrum of Anti-GAD Antibody-Positive Patients with Stiff-Person Syndrome
Neurol 55:1531-1535, Dalakas,M.C.,et al, 2000
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Optimality Score for the Neurologic Examination of the Infant at 12 and 18 Months of Age
J Pediatr 135:153-161,140, Haataja,L.,et al, 1999
The Stiff-Person Syndrome:An Autoimmune Disorder Affecting Neurotransmission of y-Aminobutyric Acid
Ann Int Med 131:522-530, Levy,L.M.,et al, 1999
Phenotypic Variability in Rippling Muscle Disease
Neurol 52:1453-1459, Vorgerd,M.,et al, 1999
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
Arch Neurol 56:721-726, Matsuo,H.,et al, 1999
Amyloid Myopathy:An Underdiagnosed Entity
Ann Neurol 43:719-728, Spuler,S.,et al, 1999
Review of 23 Patients Affected by the Stiff Man Syndrome:Clinical Subdivision into Stiff Trunk (man) Syndrome,Stiff Limb Syndrome,and Progressive Encephalopmyelitis with Rigidity
JNNP 65:633-640, Barker,R.A.et al, 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
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
Thrombolysis-Related Intracranial Hemorrhage, Analysis of 224 Cases from GUSTO-1 Trial with Clin Correl
Stroke 29:563-569, Gebel,J.M.,et al, 1998
Presentation of Narcolepsy After 40
Neurol 50:459-465, Rye,D.B.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997
Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997
Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Total Alopecia, Diabetes Mellitus, and Falls
Lancet 348:1420, Mueller-Schoop,J.W., 1996
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996