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Differential
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acanthocytosis
adrenoleukodystrophy
adverse drug reaction
Alexanders disease
aminoacidopathies
aminoacidurias
amniocentesis
arylsulfatase B
ataxia, cerebellar
atlanto-axial subluxation
Bassen-Kornzweig syndrome
birth injury
blindness
bone biopsy
bone marrow transplantation
CAT scan
CAT scan, abnormal
cataracts
cerebral cortical atrophy
cerebro hepato renal syndrome
chromosomal abnormality
cisterna magna, enlarged
Clinical Pathologic Conference(C.P.C.)
Cockayne's syndrome
compression neuropathy
conjunctival biopsy
consanguinity
cornea
cornea, abnormal
cornea, opacification in infancy-causes of
cornea, opacity of
corneal dystrophy
corpus callosum
corpus callosum, lesion of
cyst, arachnoid
deafmute
deafness
degenerative diseases of CNS
dementia
developmental milestones, loss of
developmental retardation
dissociated sensory loss
DNA probes
drug induced neurologic disorders
dwarfism
dysmorphic
dyspraxia
efficacy
electroencephalogram, abnormalities of
electron microscopy
electronystagmography
electroretinograph
encephalopathy
enzyme, defect
foam cells
Friedreich's ataxia
fundus, abnormality of
gangliosidosis GM1
gangliosidosis, generalized
gargoylism
gene therapy
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genu valgum
glaucoma
glycogen storage disease
growth retardation
Hallervorden Spatz disease
Hallgren's syndrome
hearing loss
heart block
hepatosplenomegaly
Hunter's syndrome
Hurler's syndrome
hydrocephalus
hypotonia
hypotonia, infants
Kearns-Sayre syndrome
keratoconus
Krabbe's disease
kyphoscoliosis, neurologic causes of
Laurence-Moon-Bardet-Biedl syndrome
leukodystrophy
lipid storage disorder of CNS
lipid storage myopathy
lysosomal storage disease
lysosomes, abnoral
macrocephaly
macular degeneration
malformation, CNS, congenital
mental retardation
metabolic disorder, primary
metachromatic leukodystrophy
Morquio syndrome
MRI
MRI, abnormal
MRI, disappearing lesion on
MRI, high signal foci on
MRS
mucopolysaccharidoses
mucopolysacchariduria
myelopathy
myopathy, mitochondrial
myopia
neuritis
neuroaxonal dystrophy
neurologic disease, diagnoses of
neuronal ceroid-lipofuscinosis
neuropathology
neuropathy
neuropathy, hereditary peripheral
Niemann-Pick disease
night blindness
obesity
ocular myopathy
ophthalmoplegia, plus syndrome
optic atrophy
optic nerve
optic neuropathy
osteoporosis
papilledema
paraparesis, spastic
pectus carinatum
peroxisomal disease
pigmentary retinopathy
polydactyly
pregnancy, neurologic complications in
prenatal diagnosis by amniocentesis
prognosis
pseudoretinitis pigmentosa
psychiatric disorder
quadriparesis
quadriplegia
radiculopathy
refractive errors
Refsum's disease
respiratory failure
retinal degeneration
retinal lesion
retinitis pigmentosa
retinopathy
review article
RFLPs
safety
Sanfilippo syndrome
schizophrenia
seizure
sensorineural hearing loss
short neck
short stature
skin, biopsy
sphingolipodoses
Spielmeyer Vogt syndrome
spinal cord, compression of
spinocerebellar degeneration
stem cell transplantation
tapetoretinal degeneration
tongue, enlarged
treatment of neurologic disorder
Usher's syndrome
visual acuity, decreased
visual field defect
visual fields, constricted
visual loss
white matter disease
Showing articles 0 to 50 of 889 Next >>

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

Myelopathy in Mucopolysacchariodsis Type II (Hunter Syndrome)
Ann Neurol 7:382-385, Ballenger,C.E.,et al, 1980

Compressive Myelopathy in Maroteaux-Lamy Syndrome:Clinical & Pathological Findings
Ann Neurol 8:336-340, Young,R.,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

Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
Neurol 100:344-348, Chishimba,L.C.,et al, 2023

Toward Simpler, Safer Treatment of Cryptococcal Meningitis
NEJM 386:1179-1181, Moosa, M.Y.S. & Lessells, R.J., 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

An Unexpected Response to Therapy in a Patient with HIV and Focal Seizures
Neurol 97:1084-1089, Chishimba, L.,et al, 2021

HIV Infection - Screening, Diagnosis, and Treatment
NEJM 384:2131-2143, Saag, M.S., 2021

Clinicopathologic Conference, Acute human immunodeficiency virus type 1
NEJM 385:641-648, Case 24-2021, 2021

An Unusual Cause of Sciatica in an Immunocompromised Patient
BMJ 372:n632, Kumar Singh, R., 2021

Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020

Clinicopathologic Conference, HIV Type 2 Infection & Cerebral Toxoplasmosis
NEJM 383:859-866, Case 27-2020, 2020

Clinicopathologic conference, Cryptococcal meningoencephalitis and advanced HIV infection
NEJM 383:2572-2580, Case 40-2020, 2020

Trends of Tuberculosis Case Detection, Mortality and Co-Infection with HIV in Ghana: A Retrospective Cohort Study
PLOSONE 15:e0234878, Osel, E.,et al, 2020

Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019

Toxoplasmosis in HIV-Infected Patients
www.UptoDate.com, May, Gandhi, R.T., 2019

Pediatric HIV Infection: Classification, Clinical Manifestations, and Outcome
www.UptoDate.com, June, Gillespie, S.L., 2018

A 48-year-old woman with confusion, personality change, and multiple enhancing brain lesions
Neurol 90:e1724-e1729, Hills, J.M.,et al, 2018

Trypanosoma cruzi Reactivation in the Brain
NEJM 378:1824, Sacks, C.A.,et al, 2018

Presentation of Diffuse Large B-Cell Lymphoma with Bilateral Sequential Oculomotor Neuropathy
Neurol 91;e92-e93, Galla, K.M.,et al, 2018

Spinal Coccidioidomycosis: MR Imaging Findings in 41 Patients
AJNR 39:2148-2153, Crete, R.N.,et al, 2018

Progressive Gait Difficulty and Incontinence in a 40-year-old Man with HIV
Neurol 91:1065-1070, Silverman, A.,et al, 2018

Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018

Numb Chin Syndrome
UptoDate.com Sept, Robertson, C.E., 2018

Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018

Gummatous Neurosyphilis
Neurol 90:e913-e914, Silva, H.S.,et al, 2018

A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018

Disseminated Aspergillosis in an HIV-positive Cannabis user taking steroid treatment
Lancet Infect Dis 17:882, Salam, A.P. & Pozniak, A.L., 2017

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017



Showing articles 0 to 50 of 889 Next >>