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Differential
(Click to cross reference)
acute disseminated encephalomyelitis
adrenoleukodystrophy
akinetic mute
amnestic syndrome
amniocentesis
anatomy of
aqueduct of Sylvius, stenosis
aqueductal stenosis
ataxia, hereditary
Babinski sign
basal ganglia, lesion of
basal ganglia, lesion, bilateral
blindness
bone marrow transplantation
calcarine artery
CAT scan
CAT scan, abnormal
cerebellar atrophy, secondary
cerebellar degeneration
cerebellar vermis
cerebral venous infarction
cerebral venous thrombosis
cerebrovascular accident
cherry red spot
children
chromosomal abnormality
chronic graft versus host disease
Clinical Pathologic Conference(C.P.C.)
conjunctival biopsy
cornea, abnormal
cornea, opacity of
craniopharyngioma
cultured skin fibroblasts
deep gray nuclei
dementia
dementia, thalamic
depression
developmental milestones, loss of
developmental retardation
differential diagnosis
drooling
dropped head syndrome
dysarthria
dysmorphic
dystonia
electroconvulsive therapy
electron microscopy
encephalitis
encephalitis, viral
encephalopathy
encephalopathy, neonatal
enzyme treatment
enzyme, defect
Fabry's disease
facial appearance, abnormal
fundus, abnormality of
gait disorder
gangliosidosis GM1
gangliosidosis GM2
gangliosidosis GM2-AB variant
gangliosidosis, generalized
genetic counselling
genetic diagnosis
genetic diagnosis, prenatal
genetic neurologic disorders
genetic screening
glioma
grimacing
hemangioma, cerebral
hemianopia, homonymous
hepatosplenomegaly
hexosaminidase-A
hexosaminidase-A and B
Huntington's chorea
hydrocephalus, normal pressure
hypersomnia
hypomyelination
hypotonia
hypoxic encephalopathy
inborn errors of metabolism
intellectual deterioration
intracranial hypertension, benign
Jewish
Krabbe's disease
lacunar infarction
lenticular nucleus, lesion of, bilateral
leukocyte enzyme abnormality
leukodystrophy
level of consciousness, decreased
lipid storage disorder of CNS
lysosomal storage disease
macrocephaly
mental retardation
metabolic disorder, primary-screening tests
metachromatic leukodystrophy
molecular genetics
mortality
motor neuron disease
MRI
MRI, abnormal
MRI, CAT scan compared to
MRI, diffusion weighted
MRI, hypointense signal foci on
mucopolysaccharidoses
multiple sclerosis
muscle spasm
muscular dystrophy
muscular dystrophy, Duchenne
myelinolysis, extrapontine
neuroaxonal dystrophy
neurofibromatosis 1
neurologic disease, diagnoses of
neuronal ceroid-lipofuscinosis
neuropathology
Niemann-Pick disease
ophthalmoplegia, plus syndrome
optic atrophy
optic glioma
optic neuritis
optic neuritis, bilateral
papilledema
Parkinsonism syndrome
PAS positive material in the brain
pediatric neurology
pituitary, adenoma
pons, lesion of
pontine glioma
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
psychiatric problems in neurologic disorders
psychomotor retardation
psychosis
rectal biopsy
retrobulbar neuritis
review article
rigidity
Sandhoff's disease
Schilder's disease
screening
seizure
short stature
skin, biopsy
spasticity
speech disorder
sphingolipodoses
spinocerebellar degeneration
startle reaction
stem cell transplantation
stuttering
subacute sclerosing panencephalitis(S.S.P.E.)Dawson's disease
symmetric brain lesions
Tay-Sachs disease
thalamic tumors
thalamic tumors, bilateral
thalamus
thalamus, infarction of
thalamus, infarction, bilateral
thalamus, lesion of
thalamus, lesion of-bilateral
thiamine deficiency
tone, muscle, increased
top of the basilar syndrome
treatment of neurologic disorder
urine test for metabolic disorders
vision, failure of in childhood
visual acuity, decreased
Wernicke's encephalopathy
white matter disease
Showing articles 0 to 25 of 25

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Differential Diagnosis of Bilateral Thalamic Lesions
Clin Neuroradiol 17:3-22, Linn,J.,et al, 2007

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998

MR Findings in Tay-Sachs Disease
J Comput Assist Tomogr 20:551-555, Mugikura,S.,et al, 1996

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995

Brain Imaging in Late-Onset CM2 Gangliosidosis
Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993

Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993

Electroconvulsive Therapy Treatment of Depression in a Patient with Adult GM2 Gangliosidosis
Ann Neurol 31:342-344, Renshaw,P.F.,et al, 1992

GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992

Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990

Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988

Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988

Adult GM1-Gangliosidosis:Clinical Patterns & Rectal Biopsy
Neurol 35:875-880, Nakano,T.,et al, 1985

The Cherry-Red Spot in Tay-Sachs & Other Storage Diseases
Ann Neurol 17:356-360, Kivlin,J.D.,et al, 1985

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985

Chronic GM1 Gangliosidosis Presenting as Dystonia:I. Clinical & Pathological Features
Ann Neurol 9:465-475, Goldman,J.E.,et al, 1981

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

Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978

Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977

Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973

Failure of Vision in Childhood
Proc Royal Soc Medicine, pp 494-500., , 1850



Showing articles 0 to 25 of 25