Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,et al, 2017
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Enterovirus Vaccines for an Emerging Cause of Brain-Stem Encephalitis
NEJM 370:792-794, McMinn, P.C., 2014
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Recognition and Management of Withdrawal Delirium
NEJM 371:2109-2113, Schuckit, M.A., 2014
Disorders of the Nervous System Caused by Drugs, Toxins and Chemical Agents, Mescaline, LSD, and Psilocybin
Adams & Victors Principles of Neurology Chp 43. pg 1215, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Subacute Sclerosing Panencephalitis
www.MedLink.com, February, Auwaeter,P.G.&Johnson,R.T., 2013
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
A Strange Case of Waitress Headache
Lancet 378:1824, Libera, D.D.,et al, 2011
3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Neurologic Manifestations of Vitamin B12 Deficiency
NEJM 348:2208, Scherer,K., 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Leukoencephalopathy and Raised Brain Lactate from Heroin Vapor Inhalation ("Chasing the Dragon")
Neurol 53:589-1048, Kriegstein,A.R., et al, 1999
Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
BMJ 316:582-586, 5641998., Crimlisk,H.L.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
Neurol 45:394-395, Pratt,V.M.,et al, 1995
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
HIV Encephalopathy and Dementia
Psychiatr Clin North Am 15:455-466, Pajeau,A.K.&Roman,G.C., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Neurologic Aspects of Cobalamin Deficiency
Medicine 70:229-245, Healton,E.B.,et al, 1991
Neurological and Neuropsychiatric Spectrum of Wilson's Disease:A Prospective Study of 45 Cases
J Neurol 238:281-287, Oder,W.,et al, 1991
Neuronal Intranuclear Inclusion Disease in a Child:Diagnosis by Rectal Biopsy
Ann Neurol 27:103-106, Goutieres,F.,et al, 1990
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
Neurological Sequelae of Cerebral Malaria in Children
Lancet 336:1039-1043, Brewster,D.R.,et al, 1990
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985