Pes Cavus and Neuropathy
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
Adams & Victors Principles of Neurology, Chp 37, pg 959, Ropper, A.H.,et al, 2014
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
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
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000
Long-Term Stabilization After Bone Marrow Transplantation in Juvenile Metachromatic Leukodystrophy
Arch Neurol 55:98-99, Kidd,D.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
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
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Bone Marrow Transplantation for Metachromatic Leukodystrophy
Lancet 2:471-473, Bayever,E.,et al, 1985
Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
JAMA Neurol 82:193-199, Terrim,S.,et al, 2025
Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Upadacitinib - An Up-and-Comer for Treatment of Giant-Cell Arteritis
NEJM 392:2062-2064, Koster,M.J. & Warrington,K.J., 2025
A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
A Phase 3 Trial of Inebilizumab in Generalized Myasthenia Gravis
NEJM 392:2309-2320, Nowak,R.J.,et al, 2025
Myasthenia Gravis - Redemption for B-Cell Depletion
NEJM 392:2382-2384, Wolfe,G.I. & Shelly,S., 2025
Efficacy and Safety of Ofatumumab Treatment for Anti-NMDA Receptor Autoimmune Encephalitis (OFF-AE): A Prospective, Multicenter Cohort Study
Ann Neurol 98:80-92, Guo,K.,et al, 2025
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
Neurovascular Complications of Iatrogenic Fusarium solani Meningitis
NEJM 390:522-529, Strong, N.,et al, 2024
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024
Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
Neurol 102:e209245, Togni,C.L.,et al, 2024
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
Clinical Presentation, Management, and Outcome in Neurolymphomatosis, A Systematic Review
Neurol 103:e209698, Kaulen.L.D.,et al, 2024
Tumour-Like Mass Lesion Secondary to Primary CNS Vasculitis
Neurol 103:e209819, Roberts,J.I.,et al, 2024
Primary Central Nervous System Vasculitis
NEJM 391:1028-1037, Salvarani,C.,et al, 2024
Neuroleptic Malignant Syndrome
NEJM 391:1130-1138, Wijdicks,E.F.M. & Ropper,A.H., 2024
Diagnostic MRI Score to Differentiate Susac Syndrome from Primary Angiitis of the Central Nervous System and Multiple Sclerosis
Ann Neurol 96:846-854, Marrodan,M.,et al, 2024
Clinicopathologic Conference, Infective Endocarditis Due to Haemophilus Parainfluenza
NEJM 391:2148-2157, Case 38-2024, 2024
Clinicopathologic Conference, Cryptococcal Meningoencephalitis
NEJM 391:2361-2369, Case 40-2024, 2024
A 67-Year-Old Woman with Progressive Tingling Sensations and Imlalance
Neurol 100:151-157, Horta,L.F.B.,et al, 2023
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., 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
Monkeypox-Associated Central Nervous System Disease:A Case Series and Review
Ann Neurol 93:893-905, Money,K.M.,et al, 2023