Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
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
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Long-Term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Juvenile Metachromatic Leukodystrophy Compared with Nontransplanted Control Patients
JAMA Neurol 73:1133-1140, Groeschel, S.,et al, 2016
Leukodystrophies: Classification, Diagnosis, and Treatment
Neurologist 15:319-328, Costello,D.,et al, 2009
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Long-Term Stabilization After Bone Marrow Transplantation in Juvenile Metachromatic Leukodystrophy
Arch Neurol 55:98-99, Kidd,D.,et al, 1998
Late Juvenile Metachromatic Leukodystrophy Treated with Bone Marrow Transplantation:A 4-Year Follow-up Study
Neurol 46:254-256, Navarro,C.,et al, 1996
Serial MR After Bone Marrow Transplantation in Two Patients with Metachromatic Leukodystrophy
AJNR 15:1929-1932, Stillman,A.E.,et al, 1994
Longitudinal Neurophysiologic Studies in Pt with Metachromatic Leukodystrophy Following Bone Marrow Trnspl
Arch Neurol 49:1088-1092, Dhuna,A.,et al, 1992
Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
NEJM 322:28-32, 541990., Krivit,W.,et al, 1990
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Bone Marrow Transplantation for Metachromatic Leukodystrophy
Lancet 2:471-473, Bayever,E.,et al, 1985
Endovascular Therapy for Patients with Low NIHSS Scores and Large Vessel Occlusion in the 6- to 24-Hour Window
Neurol 104:e213442, Marto,J.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
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Clinicopathologic Conference, Myasthenia Gravis
NEJM 391:1441-1450, Case 32-2024, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Thrombectomy for Acute Ischaemic Stroke Without Advanced Imaging
Lancet 402:1724-1725, Kippel,D.W.J. & Roozenbeek, B, 2023
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis
Neurol 98:e2368-e2376, Molimard, A.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
Neurol 96:1041-1051, Jain, P. & Arya, R., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Acute Ischemic Stroke in Adolescents
Neurol 94:e158-e169, Rambaud, R.,et al, 2020
Feasibility, Safety, and Outcome of Endovascular Recanalization in Childhood Stroke
JAMA Neurol 77:25-34, Sporns, P.B.,et al, 2020
Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Efficacy and Safety of Adjunctive Lacosamide in the Treatment of Primary Generalised Tonic-Clonic Seizures: A Double-Blind, Randomised, Placebo-Controlled Trial
JNNP 91:1067-1075, Vossler, D.G.,et al, 2020
Management of Stroke in Neonates and Children
Stroke 50:e51-e96, Ferriero, D.M.,et al, 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Thrombectomy 6 to 24 Hours after Stroke with a Mismatch between Deficit and Infarct
NEJM 378:11-22,81, Nogueira, R.G.,et al, 2018
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Thrombectomy for Stroke at 6 to 16 Hours with Selection by Perfusion Imaging
NEJM 378:708-718, Albers, G.W.,et al, 2018
Late Window Paradox
Stroke 49:768-771, Albers, G.W., 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Patient with Severe Moyamoya Disease Who Presents with Acute Cortical Blindness
Stroke 48:e126-e129, Sajja, A.,et al, 2017
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Endovascular Therapies for Acute Ischemic Stroke in Children
Stroke 48:2026-2030, Huang, M.I.,et al, 2017
Surgery for Drug-Resistant Epilepsy in Children
NEJM 377:1639-1647, Dwivedi, R.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017