The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
A 19-Year-Old Woman with Progressive Weakness and Numbness in Her Arms and Legs
Neurol 104:e213495, Alsabah,A-A.,et al, 2025
Severe Myotonic Crisis Resembling Malignant Hyperthermia
Neurol 104:e213497, Wadhwani,A.R.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,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
Clinicopathologic Conference, Chagas Disease
NEJM 393:1216-1225, Case 27-2025, 2025
Patent Foramen Ovale Management for Secondary Stroke Prevention:State-of-the-Art Appraisal of Current Evidence
Stroke 55:236-247, Sposato,L.A.,et al, 2024
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Tenecteplase for Stroke - Opening the Window?
NEJM 390:760-761, Leifer,D.,, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Clinicopathologic Conference, Reversible Cerebral Vasoconstriction Syndrome with Takotsubo Cardiomyopathy
NEJM 390:2108-2118, Case 18-2024, 2024
Tenecteplase Versus Standard of Care for Minor Ischaemic Stroke with Proven Occlusion (TEMPO-2): A Randomised, Open Label, Phase 3 Superiority Trial
Lancet 403:2597-2605, Coutts,S.B.,et al, 2024
Infective Endocarditis
Lancet 404:377-392, Li,M.,et al, 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,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 67-Year-Old Woman with Progressive Tingling Sensations and Imlalance
Neurol 100:151-157, Horta,L.F.B.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,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
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Thrombectomy for Acute Ischaemic Stroke Without Advanced Imaging
Lancet 402:1724-1725, Kippel,D.W.J. & Roozenbeek, B, 2023
Noncontrast Computed Tomography vs Computed Tomography Perfusion or Magnetic Resonance Imaging Selection in Late Presentation of Stroke with Large-Vessel Occlusion
JAMA Neurol 79:22-31, Nguyen, T.N.,et al, 2022
Thrombectomy for Anterior Circulation Stroke Beyond 6 h from Time Last Known Well (AURORA): A Systematic Review and Individual Patient Data Meta-Analysis
Lancet 399:249-258, Jovin, T.G.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
Thrombectomy versus Medical Management in Mild Strokes due to Large Vessel Occlusion: Exploratory Analysis from the EXTEND-IA Trials and a Pooled International Cohort
Ann Neurol 92:364-378, Sarraj, A.,et al, 2022
Diagnostic Yield of ECG-Gated Cardiac CT in the Acute Phase of Ischemic Stroke vs Transthoracic Echocardiography
Neurol 99:e1456-e1464, Rinkel, L.A.,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