Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984
Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981
Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Diagnostic Significance of Myeloperoxidase Assay in Neuronal Ceroidlipofuscinoses (Batten-Vogt Syndrome)
Neurol 28:924-927, Pilz,H.,et al, 1978
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
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
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 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
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
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
Neurol 105:e213994, Zelikovich,A.S.,et al, 2025
Outcomes After Acute Plasma Exchange for Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
Neurol 105:e213903, Thakolwilboon,S.,et al, 2025
A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025
SGLT2 Inhibitor Use and Risk of Dementia and Parkinson Disease Among Patients With Type 2 Diabetes
Neurol 103:e209805, Kim,H.K.,et al, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Cancer Frequency in MuSK Myasthenia Gravis and Histological Evidence of Paraneoplastic Etiology
Ann Neurol 96:1020-1025, Falso,S.,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
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,et al, 2024
Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
Neurol 102:e209245, Togni,C.L.,et al, 2024
Anti-NMDA Receptor Encephalitis Presenting with Cerebellitis in a Pediatric Patient
Neurol 102:e209259, Moehlman,M. & Kornbluh,A.B., 2024
Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Magnetic Resonance Imaging Characteristics of LGl1-Antibody and CASPR2-Antibody Encephalitis
JAMA Neurol 81:525-533, Kelly,Mark J., et al, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Recurrent Rhombencephalitis Associatedwith Anti-GAD65 Antibody
Neurol 102:e208040, Alferes,A.R.,et al, 2024
Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children
Neurol 103:e209321, Varley,J.A.,et al, 2024
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
MR Imaging Findings in Anti-Leucine-Rich Glioma Inactivated Protein 1 Encephalitis:A Systematic Review and Meta-Analysis
AJNR 45:977-986, Almeida,F.C.,et al, 2024
Clinicopathologic Conference, Paraneoplastic Encephalomyelitis Due to Small-Cell Lung Carcinoma and Concurrent Cerebral Amyloid Angiopathy
NEJM< 391357-369, Case 23-2024, 2024
Ictal Whistling Associated with Dominant Parahippocampal Gyrus Cortical Dysplasia
Neurol 103:e209489, Hartnett,P.,et al, 2024
Itching Frequency and Neuroanatomic Correlated in Frontotemporal Lobar Degeneration
JAMA Neurol 81:977-984, Hadad,R.,et al, 2024