Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
A 37-Year-Old Man with Multiple Cranial Neuropathies
Neurol 86:e66-e70, OLoghlen, S.,et al, 2016
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Sarcoidosis
Adams & Victors Principles of Neurology, Chp 32, pg 721, Ropper, A.H.,et al, 2014
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Clinicopath Conf
Primary Malignant Lymphoma of CNS, Diffuse, Large-Cell]B-Cell Type, Case 36-1994, NEJM 331:861-8684., , 1994
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
Stroke 22:933-937, Gordon,D.L.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Cogan's Syndrome:18 Cases & a Review of the Literature
Mayo Clin Proc 61:344-361, Vollertsen,R.S.,et al, 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978