Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989
Acetazolamide-Responsive Episodic Ataxia Syndrome
Neurol 33:1212-1214, Zasorin,N.L.,et al, 1983
Familial Periodic Ataxia
Arch Neurol 36:568-569, Donat,J.R.,et al, 1979
Hereditary Paroxysmal Ataxia:Response to Acetazolamide
Neurol 28:1259-1264, Griggs,R.C.,et al, 1978
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
Progressive Ataxia and Doenbeat Nystagmus in an Adult
JAMA Neurol 78:1018-10019, Fernandez, A.C.,et al, 2021
Nonalcoholic Wernicke Encephalopathy
Neurol 97:e1541-e1542, Hansen, G.,et al, 2021
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,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
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Cranial Nerve Hypertrophy in IgG4 Anti-Neurofascin 155 Antibody-Positive Polyneuropathy
Neurol 88:e52, Franques, J.,et al, 2017
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, 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
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 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
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Copper Deficiency as a Treatable Cause of Poor Balance
BMJ 340:864-866, Khaleeli,Z., et al, 2010
3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
MR Imaging Findings in 56 Patients with Wernicke Encephalopathy: Nonalcoholics May Differ from Alcoholics
AJNR 30:171-176, Zuccoli,Z.,et al, 2009
Wernicke Encephalopathy After Obesity Surgery: A Systematic Review
Neurol 68:807-811, Singh,S. &Kumar,A., 2007
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.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
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
Clinicopath Conf, Pernicious Anema with Autoimmune Gastritis and B12 Deficiency
NEJM 351:1333-1341, Case 30-2004, 2004
Cerebellar Ataxia and Coenzyme Q10 Deficiency
Neurol 60:1206-1208, Lamperti,C.,et al, 2003
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
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Neurological Complications of Coeliac Disease
Postgrad Med J 78:393-398, Tengah, D.S.N.A.,et al, 2002
Nitrous Oxide Anesthesia-Associated Myelopathy
ArchNeurol 57:380-382, Marie,R.,et al, 2000