Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
The Wide Spectrum of Myofibrillar Myopathy Suggests a Multifactorial Etiology and Pathogenesis
Neurol 51:1646-1655, Amato,A.A.,et al, 1998
A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Clinicopathologic Conference, Lyme Carditis
NEJM 393:799-807, Case 24-2025, 2025
A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025
A Woman with Subacute Progression of Distal Upper Extremity Weakness
Neurol 105:e214212, Zhao,A.J.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Tiger Man Sign in Sarcoid Myopathy
Neurol 105:e214323, Sun,Q.,et al, 2025
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025
From Stroke Workup to Mitochondrial Disease: A Case Report of MELAS
Radiol Case Reports 20:6248-6252, Sevencan,Y.,et al, 2025
MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions, A Case Report and Literature Review
Neurologist 30:75-79, Liu,Q.,et al, 2025
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Clinicopathologic Conference, Thyrotoxic Periodic Paralysis Associated with Graves Disease
NEJM 390:1514-1522, Case 13-2024, 2024
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,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
Clinicopathologic Conference, Infective Endocarditis Due to Haemophilus Parainfluenza
NEJM 391:2148-2157, Case 38-2024, 2024
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Neurologic Manifestations of Long COVID Differ Based on Acute COVID-19 Severity
Ann Neurol 94:146-159, Giraldo,G.S.P.,et al, 2023
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
Ann Neurol 92:201-212, Lindgren, U.,et al, 2022
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 387:1022-1032, Case 28-2022, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
A 31-year-Old Man with Bilateral Limited Mobility of Joints
JAMA Neurol 79:1083-1084, Wang, Z.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A 36-Year-Old Man With Asymmetric Muscle Weakness
Neurol 99"1057-1061, Harada,Y.,et al, 2022
MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes
Front Neurol 13:843386, Cheng,W.,et al, 2022
Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
Mal Genet Genomic Med 10:e1955, Seed,L.M.,et al, 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
A 63-Year-Old Woman Presenting with Bilateral Leg Pain
Neurol 96:343-348, Budhu, J.,et al, 2021
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Clinicopathologic Conference, Acute human immunodeficiency virus type 1
NEJM 385:641-648, Case 24-2021, 2021
A Middle-Aged Man with a History of Muscle Pain Presenting with Progressive Leukoencephalopathy and Subsequent Coma
Neurol 97:910-915, Jakobsson, A.S.,et al, 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
Anti-cN1A Antibodies are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis
Cells 10:1146, Lucchini,M.,et al, 2021
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020