Studies Of A Patient With Megaloblastic Anemia & An Abnormal Transcobalamin II
NEJM 303:1209-1212, Seligman,P.A.,et al, 1980
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Brain Magnetic Resonance Imaging in 23 Patients with Mucopolysaccharidoses and the Effect of Bone Marrow Transplantation
Ann Neurol 50:79-92, Seto,T.,et al, 2001
Mucopolysaccharidosis III (Sanfilippo Syndrome) Type B:Cranial Imaging in Two Cases
J Comput Assist Tomogr 21:897-899, Petitti,N.,et al, 1997
Human T-Cell Lymphotrophic Virus Type II-Associated Myelopathy:Clinical and Immunologic Profiles
Ann Neurol 40:714-723, Lenky,T.J.,et al, 1996
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Central Nervous System Lesions in Adult Liver Transplant Recipients:Clinical Review with Implications for Management
Medicine 73:110-118, Singh,N.,et al, 1994
Spastic Ataxia Associated with Human T-Cell Lymphotropic Virus Type II Infection
Ann Neurol 33:411-414, Harrington,W.J.,et al, 1993
Isolation of HTLV-II from Pt with Chronic, Prog Neurol Dis Clin Indistinguish from HAM/Tropical Spastic Paraparesis
Ann Neurol 33:392-396, Jacobson,S.,et al, 1993
Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992
Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981
Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977
Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972
The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971
Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964
Congenital Zika Syndrome
NEJM 394:e2, Bacin,F. & Montenegro,M.A., 2026
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
CT Perfusion Abnormality in Hypoglycemic Focal Neurological Deficits
Stroke 57:e6-e7, Mikito,S.,et al, 2026
A 41-Year-Old Man with Steroid-Responsive Hemiparesis
Neurol 106:e214088, Obaidi,Z.A.,et al, 2026
Reversible Leukoencephalopathy and Parkinsonism Due to CNS Involvement in Cryoglobulinemia
Neurol 106:e214622, German,A.,et al, 2026
Progressive Quadriparesis and Falls in a 66-Year-Old Man With Longstanding Human Immunodeficiency Virus
Neurol 106:e214621, Ong,B.A. & Carlson,A.K., 2026
Medical Management and Revascularization for Asymptomatic Carotid Stenosis
NEJM 394:219-231 296, Hrott,T.G.,et al, 2026
Clinicopathologic Conference, Disseminated Infection with Hypervirulent Klebsiella Pneumoniae
NEJM 394:282-294, Case 202026, 2026
Uncommon Faces of Disk Herniation: Atypical Imaging Presentations and Mimics
AJNR 47:244-251, Galante,M-J.,et al, 2026
Clinicopathologic Conference, Lyme Neuroborreliosis and Coinfection with Babesia Microti
NEJM 394:383-391, Case 3-2026, 2026
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