Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Parkinsons Disease
NEJM 391:442-452, Tanner,C.M. & Ostrem,J.L., 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Lentiviral Gene Therapy for Cerebral adrenoleukodystrophy
NEJM 391:1302-1312,1358, Eichler,F.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Lentiviral Haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
Lancet 399:372-383, Fumagalli, F.,et al, 2022
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Long-Term Safety and Tolerability of ProSavin, a Lentiviral Vector-Based Gene Therapy for Parkinsons Disease: A Dose Escalation, Open-Label, Phase 1/2 Trial
Lancet 383:1138-1146,1107, Palfi, S.,et al, 2014
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Arch Neurol 64:1236-1241, Rodino-Klapac,L.R.,et al, 2007
Safety and Tolerability of Gene Therapy With an Adeno-Associated Virus (AAV) Borne GAD gene for Parkinsons Disease: An Open Label, Phase I Trial
Lancet 369:2097-2105,2056, Kaplitt,M.G.,et al, 2007
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Science and Ethics of Sham Surgery, A Survey of Parkinson Disease Clinical Researchers
Arch Neurol 62:1357-1360,1343, Kim,S.Y.H.,et al, 2005
Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 2004
Neurovirological Methods and Their Applications
JNNP 74:1016-1022, Kennedy,P.G.E., 2003
Tumor-free Survival of 7 Years After Gene Therapy for Recurrent Glioblastoma
Neurol 61:270-271, Floeth,F.W,,et al, 2003
Neurogene Therapy for the 21st Century
Arch Neurol 57:54, Brady,R.O., 2000
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Gene Therapy for Cerebral Vascular Disease
Stroke 27:1688-1693, Heistad,D.D.&Faraci,F.M., 1996
Myoblast Transfer in the Tratment of Duchenne's Muscular Dystrophy
NEJM 333:832-838, 8711995., Mendell,J.R.,et al, 1995
Gene Therapy for Duchenne Dystrophy
Ann Neurol 34:3-4, Engel,A.G., 1993
Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993
Gene Therapy for Neurologic Disease
Arch Neurol 50:1252-1268, Suhr,S.T.&Gage,F.H., 1993
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
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
Calcitonin Gene-Related Peptide-Targeted Therapy in Migraine: Current Role and Future Perspectives
Lancet 405:1014-1026, Versijpt,J.,et al, 2025
Severe Myotonic Crisis Resembling Malignant Hyperthermia
Neurol 104:e213497, Wadhwani,A.R.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025
RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,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
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
Comparative Effects of Drug Interventions for the Acute Management of Migraine Episodes in Adults:Systematic Review and Network Meta-Analysis
BMJ 386:e080107, Karlsson,W.K.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024