Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Hydrocephalus in Patients with Neurofibromatosis Type 1: MR Imaging Findings and the Outcome of Endoscopic Third Ventriculostomy
AJNR 32:643-46, Dincer, A.,et al, 2011
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,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
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Neurofibromatosis
JAMA 300:352, Torpy,J.M.,et al., 2008
Immune Reconstitution Inflammatory Syndrome in the CNS of HIV Infected Patients
Neurol 67:383-388, Venkataramana,A.,et al, 2006
Multiple Sclerosis
NEJM 343:938-952, Noseworthy,J.H. et al, 2000
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
JAMA 278:51-57, Gutmann,D.H.,et al, 1997
Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurofibromatosis
Conference Statement, National Institutes of Health Consensus Development Conference, Arch Neurol 45, 57578,1988., 1988
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Autoimmune Encephalitis as Treatment-Responsive Cause of Rapidly Progressive Dementia
Neurol 106:e214933, van Steenhoven,R.W.,et al, 2026
Severe Myotonic Crisis Resembling Malignant Hyperthermia
Neurol 104:e213497, Wadhwani,A.R.,et al, 2025
Use and Eligibility for Glucose-Like Peptide-1 Receptor Agonist Treatment for Primary Preveention of Stroke
Neurol 104:e213739, Wilson,L.M. & Anderson,T.S., 2025
A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
Efficacy and Safety of Selimetinib in Adults with Neurofibromatosis Type 1 and Symptomatic, Inoperable Plexiform Neurofibromas (KOMET): A Multcentre, International, Randomised Placebo-Controlled, Parallel, Double-Blind, Phase 3 Study
Lancet 405:2217-2230, Chen,A.P.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
GLP-1 Receptor Agonists in Idiopathic Intracranial Hypertension
JAMA Neurol 82:887-892, Sioutas,G.S.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
Neuroimaging Findings in Children and Young Adults with Neurotoxicity after CAR T-Cell Therapy for B-Cell Malignancies
Neurol 105:e214086, McGuire,J.L.,et al, 2025
Idiopathic Intracranial Hypertension
NEJM 393:1409-1414, Horton,J.C., 2025
Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
Tirzepatide for the Treatment of Obstructive Sleep Apnea and Obesity
NEJM 391:1193-1205, Malhotra,A.,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
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
Neurol 100:344-348, Chishimba,L.C.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Progressive Hemiparesis and White Matter Abnormalities in an HIV-Negative Patient
Neurol 100:1156-1163, Jabbari,E.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Confused About Confusion
NEJM 386:80-87, Spanjaart, A.M.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Efficacy and Safety of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1
Neurol 98:e938-e946, Hwang, J.,et al, 2022
Toward Simpler, Safer Treatment of Cryptococcal Meningitis
NEJM 386:1179-1181, Moosa, M.Y.S. & Lessells, R.J., 2022
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
In Patients with Melanoma Brain Metastases, is Combination Immune Checkpoint Inhibition a Safe and Effective First-Line Treatment? A Critically Appraised Topic
Neurologist 27:290-297, Gritsch, D.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022