Benign Familial Nocturnal Alternating Hemiplegia of Childhood
Neurol 44:1812-1814, Andermann,E.,et al, 1994
Multimodal Imaging of Reversible Cerebral Vasoconstriction Syndrome: A Series of 6 Cases
AJNR 33:1403-1410, Marder, C.P.,et al, 2012
Narrative Review: Reversible Cerebral Vasoconstriction Syndromes
Ann Intern Med 146:34-44, Calabrese,L.H.,et al, 2007
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 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
ED Misdiagnosis of Cerebrovascular Events in the Era of Modern Neuroimaging
Neurol 88:1468-1477, Tarnutzer, A.A.,et al, 2017
Significant Period Between Presentation and Diagnosis in Basilar Artery Occlusion
Stroke 46:e79-e81, Organek, N.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Sporadic Creutzfeldt-Jakob Disease with Focal Findings: Caveats to Current Diagnostic Criteria
Neurol Internat 5:1-5, Mader, E.C.,et al, 2013
Pure Motor Monoparesis Due to Ischemic Stroke
The Neurologist 17:301-308, Hiraga, A., 2011
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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
Common Misdiagnosis of a Common Neurological Disorder: How Are We Misdiagnosing Essential Tremor?
Arch Neurol 63:1100-1104, Jain,S.,et al, 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
The Spectrum of Presentations of Venous Infarction Caused by Deep Cerebral Vein Thrombosis
Neurol 65:192-196, van den Bergh,W.M.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Susac Syndrome:Report of Four Cases and Review of the Literature
AJNR 25:382-388,351, Do,T.H.,et al, 2004
Stroke in a Healthy 46-Year-Old Man
JAMA 285:2757-2762, Wityk,R.J., 2001
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Clinicopath Conf
Demyelinating Process Consistent with Multiple Sclerosis, Case 26-1998, NEJM 339:542-549998., , 1998
Carotid Dissection Causing Stroke in a Child with Migraine
BMJ 314:291-292, Ganesan,V.&Kirkham,F.J., 1997
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Intracranial Aneurysm Rupture Presenting as Delayed Stroke Secondary to Cerebral Vasospasm
Stroke 28:2078-2080, Nussbaum,E.S.,et al, 1997
Visual Hallucinations in Psychologically Normal People:Charles Bonnet's Syndrome
Lancet 347:794-797, Teunisse,R.J.,et al, 1996
Magnetic Resonance Angiography in the Diagnosis of Deep Cerebral Venous Thrombosis
J Stroke Cerebrovasc Dis 5:29-32, Finelli,P.F.,et al, 1995
Antiphospholipid Antibody Syndrome Mimicking Multiple Sclerosis Clinically and by Magnetic Resonance Imaging
Arch Int Med 154:917-920, Scott,T.F.,et al, 1994
Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
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 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Guidelines in Action: Worse Headache of Life...Yesterday
Stroke 54:e488-e491, Albin,C.S.W., 2023
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022