Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
MR of Zellweger Syndrome
AJNR 18:1163-1170, Barkowich,A.J.&Peck,W.W., 1997
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990
Neurological and Developmental Findings in Children with Cataracts
Am J Dis Child 13:706-710, Pike,M.G.,et al, 1989
Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
Neurol 34:1531-1541, Williams,R.S.,et al, 1984
A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
Arch Neurol 36:553-556, Barron,S.A.,et al, 1979
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977
Rubella Vaccination During Pregnancy
G. V. , et al, NEJM 295:3966., Quinman,Jr., 1976
Herpes Simplex & the Human Nervous System
Milit Med 140:765, Finelli,P.F., 1975
Pendular Nystagmus, In Ocular Differential Diagnosis
Lea & Febiger, Phila, 1975, p. 119., Roy,F.H., 1975
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Rubella, Clinical Manifestations & Management
Am J Dis Child 118:18-29, Cooper,L.Z.,et al, 1969
Congenital Rubella
Am J Dis Child 118:32-34, Menser,M.A.,et al, 1969
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Congenital and Acquired Chiari Syndrome
NEJM 390:2191-2198, Friedlander,R.M., 2024
Infective Endocarditis
Lancet 404:377-392, Li,M.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Tersons Syndrome
NEJM 388:e79, Sherman,S.V., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
Subarachnoid Hemmorhage During Pregnancy and Puerperium:A Population-Based Study
Stroke 54:198-207, Korhonen,A., et al, 2023
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Case Report of Lambl Excrescences in a Pediatric Patient with Multifocal Strokes
Neurol 99:73-76, Robertson, D.M.,et al, 2022
Spina Bifida
NEJM 387:444-450, Iskandar, B.J. & Finnell, R.H., 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Spontaneous Subarachnoid Haemorrhage
Lancet 400:846-862, Claassen, J. & Park, S., 2022
New Onset Focal Tremor in Patient with Human Immunodeficienccy Virus
Clin Infect Dis 75:1861-1863, Finelli,P.F., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Infantile and Childhood Hydrocephalus
NEJM 387:2067-2073, Whitehead,W.E.&Weiner,J.L., 2022
Chorioretinopathy After Corticosteroid Treatment for Optic Neuritis
Neurol 96:e305-e306, Ling, J. and Micieli, J.A., 2021
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
A Rare Treatable and Under Recognized Cause of Recurrent Convexity Subarachnoid Hemorrhage:Lupus anticoagulant Hypoprothombinemia Syndrome
Ann Indian Acad Neurol 24:986-989, Jain, S.,et al, 2021
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Acute Ischemic Stroke in Adolescents
Neurol 94:e158-e169, Rambaud, R.,et al, 2020
Feasibility, Safety, and Outcome of Endovascular Recanalization in Childhood Stroke
JAMA Neurol 77:25-34, Sporns, P.B.,et al, 2020
Delayed Leukoencephalopathy: A Rare Complication after Coiling of Cerebral Aneurysms
AJNR 41:286-292, Ikemura, A.,et al, 2020
Ondine Curse Syndrome Cause by Dorsolateral Medullary Stroke
Neurol 94:e1557-e1558, Fiedler, E. & Gill, R., 2020
Blurred Vision
BMJ 368:m569, Zhou, S.,et al, 2020
Vessel Wall MR Imaging for the Detection of Intracranial Inflammatory Vasculopathies
Cardiovasc Diagn Ther 10:1108-1119, Edjlali,M.,et al, 2020
Bilateral Alopecia as Clue to Diagnosis of Gomez-Lopez-Hernandez Syndrome in a 38-Year-Old Man
Neurol 93:408-410, Kronlage,C.&Healy,D.G., 2019