Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Laboratory Diagnosis of Creutzfeldt-Jakob Disease
NEJM 386:1345-1350, Zerr, I., 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,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
Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,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
Wilson Disease Presenting with Catatonia
Neurol 96:e2781-e2782, Patel, R.A. & Bailey, M., 2021
Acute Treatment for Migraine
JAMA 325:2346-2347, Burch, R. & Rayhill, M., 2021
A 13-Year-Old Boy with Subacute-Onset Spastic Gait
JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021
Atogepant for the Preventive Treatment of Migraine
NEJM 385:695-706, Ailani,J.,et al, 2021
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Area Postrema Syndrome as the Initial Presentation of Alexander Disease
Neurol 97:548-549, Renaldo, F.,et al, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Sporadic Creutzfeldt-Jakob Disease in a Very Young Person
Neurol 97:813-816,801, Appleby, B.S.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
Bilateral Temporal Pole Involvement in Adult-Onset X-Linked Adrenoleukodystrophy
JAMA Neurol 78:367-368, Liu, M.,et al, 2021
Brain and Skin Involvement in Erdheim-Chester Disease
Neurol 96:e1590-e1592, Budhram, A.,et al, 2021
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Dressing Apraxia as Initial Manifestation of Creutzfeldt-Jakob Disease
Tremor and Other Hyperkinetic Movements 10:1-3, Heckmann, J.G.,et al, 2020
Migraine
NEJM 383:1866-1876, Ashina, M., 2020
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
Variant Creutzfeldt-Jakob Disease Diagnosed 7.5 Years after Occupational Exposure
NEJM 383:83-85, Brandel, J.P.,et al, 2020
"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Homonymous Hemianopia with Normal Magnetic Resonance Imaging
JAMA Ophthalmol doi:10.1001/JAMAOphthalmol.2020.0447, Cai, S.,et al, 2020
Rapid Progression of Prion Disease Associated with Transverse Myelitis
Neurol 94:e1670-e1672, Hussein, O.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
AJNR 41:1126-1130, Mabray, M.C.,et al, 2020
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020