The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Spontaneous Subarachnoid Haemorrhage
Lancet 400:846-862, Claassen, J. & Park, S., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,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, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
A 72-year-old Man with Rapid Cognitive Decline and Unilateral Muscle Jerks
Neurol 82:e194-e197, Duncan, M.,et al, 2014
Giant-Cell Arteritis and Polymyalgia Rheumatica
NEJM 371:50-57, Weyand, C.M. & Goronzy J.J., 2014
Evaluation of a Patient with Spinal Cord Infarction after a Hypotensive Episode
Stroke 45:e203-e205, Vongveeranonchai, N.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Ischemic-Hypoxic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1133, Ropper, A.H.,et al, 2014
Polymyalgia Rheumatica
Lancet 381:63-72, Kermani, T. & Washington, K., 2013
Clinicopathologic Conference, Acute Ischemic Stroke due to Basilar Artery Embolism. Patent Foramen Ovale
NEJM 367:1450-1460, Case 31-2012, 2012
Diagnosis and Management of the Antiphospholipid Syndrome
BMJ 340:1125-1132, Cohen,D., et al, 2010
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
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
Pediatric Encephalitis: What Is the Role of Mycoplasma Pneumoniae
Pediatrics 120:305-313, Christie,L.J., et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
The Neurologic Complications of Scleromyxedema
Medicine 80:313-319, Berger,J.R.,et al, 2001
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
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Frequency and Pathogenesis of Hemodynamic Stroke
Stroke 25:2179-2182, Bladin,C.F.&Chambers,B.R., 1994
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
Ann Neurol 32:51-56, Rivkin,M.J.,et al, 1992
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
Pediatrics 87:159-165, Schreiner,M.S.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Syncope:Current Diagnostic Evaluation and Management
Ann Int Med 112:850-863, Manolis,A.S.,et al, 1990
Takayasu Arteritis, A Study of 32 North American Patients
Medicine 64:89-99, Hall,S.,et al, 1985
Cysticercosis-Review of 230 Patients
Bull Clin Neurosci 50:76-101, McCormick.G.F., 1985
A 35-Year-Old Patient with Rapidly Progressive Ascending Weakness Leading to Loss of Brainstem Reflexes
Neurol 106:e218059, Lyons,H.J.,et al, 2026
Spontaneous Spinal Cord Infarction in a Young Patient: An Overview of Clinical Features and Management
Stroke 56:58-61, Chornay,C.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024