Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
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
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Long Survival Sporadic Creutzfeldt-Jakob Disease
Neurol 95:87-88, Liu, X.Y.,et al, 2020
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
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
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Recent Advances in Neuroblastoma
NEJM 362:2202-2011, Maris,J.M., et al, 2010
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Practice Parameter: Screening and Diagnosis of Autism
Neurol 55:468-479, Filipek,P.A. et al, 2000
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Relationship Between Trinucleotide Repeats and Neuropathological Changes in Huntington's Disease
Ann Neurol 39:132-136, Furtado,S.,et al, 1996
Trinucleotide Repeat Length and Clinical Progression in Huntington's Disease
Neurol 46:527-531, Brandt,J.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
Ann Neurol 36:630-635, Illarioshkin,S.N.,et al, 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Clinical Presentation, Management, and Outcome in Neurolymphomatosis, A Systematic Review
Neurol 103:e209698, Kaulen.L.D.,et al, 2024
Tau Positron Emission Tomography for Predicting Dementia in Individuals with Mild Cognitive Impairment
JAMA Neurol 81:845-856, Groot,C.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 65-Year-Old Woman with Cancer History and Wrist Drop
Neurol 99:570-576, Merrill, R.,et al, 2022
Subacute Progressive Sensorimotor Symptoms
BMJ 365:doi:10.1136/bmj.l1923, Francis, A.,et al, 2019
A 30-year-old man with headache and sleep disturbance
Neurol 90:e1535-e1540, English, S.W.,et al, 2018
Diagnosis and Management of Dementia with Lewy Bodies
Neurol 89:88-100, McKeith, I.G.,et al, 2017
A 47-year-old Woman with Left Shoulder Pain after a Fall
Neurol 83:e112-e116, Jerath, N.U.,et al, 2014
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 2013
Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013
Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force
Eur J Neurol 18:19-27, Titulaer, M.J.,et al, 2011
Mild Cognitive Impairment
NEJM 362:2227-2234, Peterson, R.C., 2011
A 31-Year-Old Woman with a Transformed Low-Grade Glioma
JAMA 303:967-976, Warnke,P.C., 2010
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Imaging Manifestations of Progressive Multifocal Leukoencephalopathy
Clinical Radiol 65:431-439, Shah,R.,et al, 2010
Combining MR Imaging, Positron-Emission Tomography, and CSF Biomarkers in the Diagnosis and Prognosis of Alzheimers Disease
AJNR 31:347-354, Walhovd, K.B.,et al, 2010