Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Brain Imaging in Myotonic Dystrophy Type 1
Neurol 89:960-969, Okkersen, K.,et al, 2017
Clinicopathologic Conference, Paroxysmal Nocturnal Hemoglobinuria
NEJM 377:2581-2590, Case 40-2017, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
Arch Neurol 55:305-311, 2911998., Chang,L.,et al, 1998
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,et al, 1998
Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995
Cerebral Abnormalities in Myotonic Dystrophy
Arch Neurol 50:917-923, Chang,L.,et al, 1993
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Magnetic Resonance Imaging and Clinical Correlates of Intellectual Impairment in Myotonic Dystrophy
Arch Neurol 46:536-540, Huber,S.J.,et al, 1989
Duchenne Muscular Dystrophy Carrieris
Neuroradiology 31:373-376, Matsumura,K., 1989
Central Nervous System Magnetic Resonance Imaging Findings in Myotonic Dystrophy
Arch Neurol 45:36-37, Glantz,R.H.,et al, 1988
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Clinicopathologic Conference, Myeloperoxidase antineutrophil cytoplasmic antibody-associated vasculitis
NEJM 390:843-851, Case 7-2024, 2024
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
www.UptoDate.com, Sept, Flanagan,E.P. & Tillema,J-M, 2023
Progressive Cranial Neuropathy
JAMA Neurol 80:1375-1376, Buchberger,D.S.,et al, 2023
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 2022
Bilateral Complete Ophthalmoplegia in a 50-Year-Old Man
JAMA Neurol 79:724-725, Arora, N.,et al, 2022
Diplopia and Ptosis in an Older Woman
JAMA Neurol 79:947-948, Stallworth, J.Y.,et al, 2022
A 51-Year-Old Woman with Diplopia and Headache
Neurol 99:524-530, Kathuria, G.,et al, 2022
Cases of Stroke Presenting with an Isolated Third Nerve Palsy
Stroke 52:e58-e60, Indraswari, F.,et al, 2021
Clinicopathologic Conference, Lympohplasmic Lymphoma of the CNS (Bing-Neel Syndrome)
NEJM 384:745-753, Case 6-2021, 2021
Headache, Cognitive Decline, and a Curious Rim-Enhancing Lesion
JAMA Neurol 78:613-614, Beaman, C.B.,et al, 2021
Radiation-Induced Bilateral Oculomotor Nerve Palsy 20 Years After Radiation Treatment
Neurol 96:955-957, Grassmeyer, J.J.,et al, 2021
Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021
A 71-Year-Old Man with Horizontal Gaze Palsy, Anarthria, and Quadriparesis
Neurol 96:1146-1150, Cheema, I.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 59-Year-Old Woman Presenting with Diplopia, Dysarthria, Right-sided Weakness, and Encephalopathy
Neurol 97:e859-e864, Manzano, G.S.,et al, 2021
Nonalcoholic Wernicke Encephalopathy
Neurol 97:e1541-e1542, Hansen, G.,et al, 2021