Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Tinnitus
NEJM 378:1224-1231, Bauer, C.A., 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Assessment and Management of Behavioral and Psychological Symptoms of Dementia
BMJ 350:h369, Kales, H.C.,et al, 2015
Identifying and Managing Common Childhood Language and Speech Impairments
BMJ 350:h2318, Reilly, S.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Recognizing Autoimmune-Mediated Encephalitis in the Differential Diagnosis of Limbic Disorders
AJNR 36:2196-2205, da Rocha, A.J.,et al, 2015
The Acquired Metabolic Disorders of the Nervous System, Uremic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1145, Ropper, A.H.,et al, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Normal Pressure Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 624, Ropper, A.H.,et al, 2014
Herpes Simplex Virus Encephalitis:Clinical Manifestations,Diagnosis and Outcome in 106 Adult Patients
J Clin Virol 60:112-118, Sili,U.,et al, 2014
Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Neuromyelitis Optica in France: A Multicenter Study of 125 Patients
Neurol 74:736-742, Collongues,N.,et al, 2010
Subacute sclerosing panencephalitis: An Update
Dev Med Child Neurol 52:901-907, Guitierrez, J.,et al, 2010
Motor Development in Very Preterm and Very Low-Birth-Weight Children From Birth to Adolescence: A Meta-Analysis
JAMA 302:2235-2242, 2257, De Kieviet,J.,et al, 2009
Voltage-gated Potassium Channel-associated Limbic Encepahlitis in the West of Scotland:Case Reports and Literature Review
Scott Med J 54:27-31, Reid,J.M.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Community-Acquired Bacterial Meningitis in Adults
NEJM 354:44-53, van de Beek,D.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Spinal dural arteriovenous fistulas: a congestive myelopathy that initially mimics a peripheral nerve disorder
Brain 129:3150-3164, Jellema, K., et al, 2006
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Dementia with Lewy Bodies
Lancet 362:1689-1690, Wilcock,G.K., 2003
Neuropsychiatry of the Basal Ganglia
JNNP 72:12-21, Ring,H.A &Serra-Mestres,J., 2002
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
Multiple Sclerosis and Magnetic Resonance Imaging
Arch Neurol 58:35-36, Racke,M.K.,et al, 2001
Neurologic and Developmental Disability After Extremely Preterm Birth
NEJM 343:378-384,429, Wood,N.S. et al, 2000
Rehabilitation of Persons With Traumatic Brain Injury
JAMA 282:974-983,989, NIH Consensus Development Panel on Rehab with TBI, 1999
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
Musculoskeletal and Neurologic Outcomes in Patients with Previously Treated Lyme Disease
Ann Int Med 131:919-926, Shadick,N.A.,et al, 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Subdural Haemorrhages in Infants:Population Based Study
BMJ 317:1558-1561,1538, Jayawant,S.,et al, 1998
Management Issues for Women with Epilepsy,A Review of the Literature
Neurol 51:949-956, Zahn,C.A.,et al, 1998