Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
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
The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults
Neurol 41:794-798, Coker,S.B., 1991
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
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
Compressive Myelopathy in Maroteaux-Lamy Syndrome:Clinical & Pathological Findings
Ann Neurol 8:336-340, Young,R.,et al, 1980
Myelopathy in Mucopolysacchariodsis Type II (Hunter Syndrome)
Ann Neurol 7:382-385, Ballenger,C.E.,et al, 1980
Deficiency of Arylsulfatase B in 2 Brothers Aged 40 & 38 Years (Maroteaux-Lamy Syndrome, Type B)
Ann Neurol 6:315-325, Pilz,H.,et al, 1979
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
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
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
EMA401, An Orally Administered Highly Selective Angiotensin II Type 2 Receptor Antagonist, as a Novel Treatment for Postherpetic Neuralgia: A Randomised, Double-Blind, Placebo-Controlled Phase 2 Clinical Trial
Lancet 383:1637-1647, Rice, A.C.,et al, 2014
Early Surgery Versus Initial Conservative Treatment in Patients with Spontaneous Lobar Intracerebral Haemotomas (STICH II): a Randomized Trial
Lancet 382:397-408,377, Mendelow, A.D.,et al, 2013
Surgery or Conservative Therapy for Cerebral Hemorrhage?
Lancet 382:377-378, Gautschi, O.P. & Schaller, K., 2013
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Use of Angiotension Receptor Blockers and Risk of Dementia in a Predominantly Male Population: Prospective Cohort Analysis
BMJ 340:141-147, 111, Li,N.-C.,et al, 2010
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Angiotensin Receptor Blockers Should Be Regarded as First-Line Drugs for Stroke Prevention in Both Primary and Secondary Prevention Settings: No
Stroke 40:3161-3162, 3163, Strauss,M. &Hall,A., 2009
Angiotensin Receptor Blockers Should Be Regarded as First-Line Drugs for Stroke Prevention in Both Primary and Secondary Prevention Settings: Yes
Stroke 40:3159-3160, 3163, Hackam,D., 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
Prophylactic Treatment of Migraine With an Angiotnesin II Receptor Blocker
JAMA 289:65-69, Tronvik,E.,et al, 2003
Prevalence and Clinical Features of HTLV Neurologic Disease in the HTLV Outcomes Study
Neurol 61:1588-1594, Orland,J.R.,et al, 2003
HTLV-Associated Myelopathy in a Cohort of HTLV-I and HTLV-II Infected Blood Donors
neurol 48:315-320, Murphy,E.L.,et al, 1997
Neurologic Consequences of HTLV-II Infection in Injection-Drug Users
Neurol 46:1556-1560, Dooneief,G.,et al, 1996
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