Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Recent Advances in the Diagnosis and Management of Cluster Headache
BMJ 376:e059577, Schindler, E. & Burish, M.J., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Radiologically Isolated Syndrome: A Review for Neuroradiologists
AJNR 41:1542-1549, Hosseiny, M.,et al, 2020
Long-Term Treatment Effect in Cerebrotendinous Xanthomatosis Depends on Age at Treatment Start
Neurol 92:e83-e95, Stelten, B.M.L.,et al, 2019
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Pseudo-Leptomeningeal Contrast Enhancement at 3T in Pediatric Patients Sedated by Propofol
AJNR 39:1739-1744, McKinney, A.M.,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
"Phacing" a New Cause of Carotid Artery Dissection
Neurologist 22:54-56, Kulyk, C.,et al, 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Menkes Disease Mimicking Child Abuse
Pediat Dermatol 34:e132-e134, Droms, R.J.,et al, 2017
Performance of Bedside Stroke Recognition Tools in Discrimination Childhood Stroke from Mimics
Neurol 86:2154-2161, Mackay, M.T.,et al, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
Adams & Victors Principles of Neurology, Chp 39, pg 1099, Ropper, A.H.,et al, 2014
Juvenile Myasthenia Gravis: Recommendations for Diagnostic Approaches and Treatment
Neuropediatrics 45:75-83, Marina, A.D.,et al, 2014
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
Recognizing Guillain-Barr� Syndrome in Preschool Children
Neurol 76:807-810, Roodbol,J.,et al, 2011
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Encephalitis and antibodies to synaptic and neuronal cell surface proteins
Neurol 77:179-189, Lancaster, E.,et al, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
A Comparison of MRI Criteria for Diagnosing Pediatric ADEM and MS
Neurol 74:1412-1415, 1404, Ketelslegers,I.A., et al, 2010
Clinical Reasoning: Seizures in a Child With Sensorineural Deafness and Agitation
Neurol 74:e61-e63, Auvin,S., et al, 2010
Tourettes Syndrome
NEJM 363:2332-2338, Kurlan,R., 2010
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Neonatal Seizures
Ann Neurol 62:112-120, Silverstein,F.S. &Jensen,F.E., 2007
10 Questions About the Clinical Determination of Brain Death
Neurologist 13:380-381, Wijdicks,E.F.M., 2007
Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Epilepsy in Children
Lancet 367:499-524, Guerrini,R., 2006
Episodic Neurologic Dysfunction with Migraine and Reversible Imaging Findings After RadiationRRH
Neurol 67:676-678, Pruitt,A.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006