Niemann-Pick Type C Disease
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Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-L-Leucine in Adult and Pediatric Patients with Neimann-Pick Disease Type C
Neurol 105:e213589, Patterson,M.C., et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,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 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
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"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
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Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Enzyme Replacement Therapy in Fabry Disease
JAMA 285:2743-2749, Schiffmann,R.,et al, 2001
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Gangliosides and Neurological Diseases, Their Use in Humans Should be Suspended
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Fucosidosis Revisited:A Review of 77 Patients
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Lower Motor Neuron Disease in a Patient with Autoantibodies Against Gangliosides GM1 and GD1b:Improvement with Immunotherapy
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Retinitis Pigmentosa
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
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Autoimmune Encephalitis as Treatment-Responsive Cause of Rapidly Progressive Dementia
Neurol 106:e214933, van Steenhoven,R.W.,et al, 2026
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
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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
Pan-Neurofascin Nodo-Paranodopathy Presenting as Fulminant Guillain-Barre Syndrome
Neurol 105:e213848, Cabral,A.,et al, 2025
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
A 72-Year-Old Man with Progressive Pan-Dysautonomia
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Outcomes After Acute Plasma Exchange for Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
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Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
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A 66-Year-Old Man with Chronic Orthostatic Hypotension
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Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
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Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Clinicopathologic Conference, Myasthenia Gravis
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A 67-Year-Old Woman with Progressive Tingling Sensations and Imlalance
Neurol 100:151-157, Horta,L.F.B.,et al, 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinical Characteristic of Myelin Oligodendrocyte Glycoprotein Antibody Associated Cortical Encephalitis in Adults and Outcomes Following Glucocorticoid Therapy
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Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Glial Fibrillary Acidic Protein Autoimmunity
Neurol 98:e653-e668, Gravier-Dumonceau, A.,et al, 2022
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 2022
A New Option is Approved for Patients with Myasthenia Gravis
JAMA 327:417, Voelker, R., 2022
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
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Neuromyelitis Optica Spectrum Disorder
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