A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Neurologic Findings in Men with Isolated Hypogonadotropic Hypogonadism
Neurol 39:223-226, Schwankhau,J.D.,et al, 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
Ann Neurol 6:302-314, Dyck,P.J.,et al, 1979
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977
Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977
Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
Neurol Sciences 28:17-40, Salisachs,P.J., 1976
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Surgical Versus Nonsurgical Treatment for Back Pain
NEJM 357:1255, Copeland,B., 2007
Treatment of Physicians With Epilepsy
Neurol 69:1374-1379, Allen,J.W. &Devinsky,O., 2007
Conditions That Mimic Stroke in the Emergency Department
Arch Neurol 52:1119-1122, Libman,R.B.,et al, 1995
Weeping as a Common Element of Pseudoseizures
Arch Neurol 50:1059-1060, Bergen,D.&Ristanovic,R., 1993
Brain Tumor Presenting as an Acute Pure Motor Hemisparesis
Stroke 20:288-291, Fisher,M.&Recht,L.D., 1989
Hypothalamic Hamartomas & Ictal Laughter:Evolution of Charact Epileptic Syndrome & Diagnostic Value of MRI
Ann Neurol 23:429-439, Berkovic,S.F.,et al, 1988
If I Had a Transient Ischemic Attack at the Age of 55
BMJ 1:969, Pearce,J.M.S., 1978
Remote Cerebral Infarction as a Presenting Manifestation of Brain Tumor
Milit Med 141:548, Finelli,P.F., 1976
Eletrophoretic Analy. of CSF Proteins in Pts with CNS Mass Lesions
J Neurosurg 36:679, Weber,E.L., 1972
Oculomotor Palsy From Minor Head Trauma
JAMA 220:1083, Eyster,E.F.,et al, 1972
Acquired Sixth-Nerve Paresis in Children
Arch Ophthal 83:574-579, Robertson,D.M.,et al, 1970
Multiple Giant Perivascular Spaces in Hypomelanosis of Ito
Ann Neurol 99:825-826, Chammas,D.E.,et al, 2026
Unilateral Primary Angiitis of the Central Nervous System: A Rare and Under-Recognized Entity
AJNR 47:589-595, Rai,P.,et al, 2026
Brain CT for Diagnosis of Intracranial Disease in Ambulatory Patients with Cancer:Assessment of the Diagnostic Value of Scanning without Contrast Prior to With Contrast
AJNR 47:694-698, Wang,E.,et al, 2026
Zorevunersen in Children and Adolescents with Dravet Syndrome
NEJM 394:969-982, Laux,L.,et al, 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Association of Changes in Activity Patterns with Brain Atrophy and Disability Progression in People with Multiple Sclerosis
Neurol 106:e214678, e214742, Fitzgerald,K.C.,et al, 2026
Using Susceptibility-Based Imaging in Highly Active Late-Onset Multiple Sclerosis
Neurol 106:e214794, Sosa,S.M.,et al, 2026
A 49-Year-Old Man with Meningoencephalitis and Persistent Altered Mental Status
Neurol 106:e214777, Hariswar,P.T.,et al, 2026
Clinical Insights Into CASPR1 and CASPR1/Contactin1 Com-lex Autoimmune Nodopathies
Neurol 106:e214403, Paramasivan,N.K.,et al, 2026
Paramagnetic Rim Lesions and Development of Clinical MS in Radiologically Isolated Syndrome
JAMA Neurol 83:250-258, Lim,T.R.et al, 2026
Polymyalgia Rheumatica
NEJM 394:1097-1109, Dejaco,C.,et al, 2026
Disseminated Brain Infarcts Associated with Uterine Myoma
Stroke 57:e61-e62, Elbischger,J.,et al, 2026
Increased Prevalence of Nitrous Oxide-Induced Subacute Combined Degeneration of the Spinal Cord: Clinical and Imaging Findings
AJNR 47:513-520, Bruen,R.,et al, 2026
Tenecteplase for Acute Non-Large Vessel Occlusion 4.5 to 24 Hours After IschemicStroke, The OPTION Randomized Clinical Trial
JAMA doi:10.1001/JAMA.2026.0210, Ma,G.,et al, 2026
A Randomized Trial of Tenecteplase in Acute Central Retinal Artery Occlusion
NEJM 394:442-450, Ryan,S.J.,et al, 2026