The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Clinicopath Conf, Neurofibromatosis Type 1, with Multiple Spinal Neurofibromas
NEJM 352:1800-1808, Case 13-2005, 2005
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
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
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Clinicopath Conf, Von Hippel Lindau Disease, Adrenal Pheochromocytoma, Brain-Stem and Spinal Cord Hemangioblastoma
NEJM 355:394-402, Case 23-2006, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 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
Congenital Asymmetric Crying Facies Syndrome, A Case Report
Medicine 97:31(e11403), Liang,X. & He,B., 2018
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017