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Differential
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abdominal cramps
acid maltase deficiency
acid maltase deficiency, adult
acral sensory symptoms
adrenoleukodystrophy
adrenomyeloneuropathy
agalsidase alfa
alpha glucosidase
aminoacidopathies
aminoacidurias
amniocentesis
angina pectoris
angiokeratoma
anhidrosis
anterior horn cell disease
anterior tibial muscle weakness
antiviral agents
Arnold Chiari malformation
arthropathy
arthropathy, neuropathic
arylsulfatase A
aspartate aminotransferase
aspiration
asymptomatic
ataxia
ataxia telangiectasia
ataxia, cerebellar
ataxia, progressive
athetosis
atidarsagene autotemcel
attention deficit disorder with hyperactivity
attention span
autonomic dysfunction
axonal spheroid
Babinski sign
basal ganglia, lesion of
basal ganglia, lesion, bilateral
basilar impression
behavioral disorder
blindness
blood dyscrasias, neurologic findings with
bone marrow biopsy
bone marrow transplantation
brain atrophy
brain biopsy
brain biopsy, complications of
brain biopsy, false negative
brain biopsy, indication
brainstem, infarction of
burning feet
burning feet, differential diagnosis of
burning hands
burning paresthesia
cardiomyopathy
CAT scan
CAT scan, abnormal
CAT scan, false negative
cataplexy
cataracts
cerebellar ataxia, children
cerebellar ataxia, children, differential diagnosis of
cerebellar infarction
cerebral cortical atrophy
cerebral ischemia
cerebrospinal fluid, gammaglobulin of
cerebrotendinous xanthomatosis
cerebrovascular accident
cerebrovascular accident, cryptogenic
cerebrovascular accident, familial occurrence
cerebrovascular accident, non atherosclerotic cause of
cerebrovascular accident, young adult
cerebrovascular disease
cerebrovascular disease, cardiovascular disease with
cherry red spot
cherry red spot-myoclonus syndrome
children
chorea
choreoathetosis
chromosomal abnormality
chronic graft versus host disease
Clinical Pathologic Conference(C.P.C.)
coagulopathy
cognition
complications
compression fracture
congestive heart failure
consanguinity
contractures, joint
cornea, abnormal
cornea, opacification in infancy-causes of
cornea, opacity of
corneal dystrophy
corpus callosum
corpus callosum, hypoplastic
corpus callosum, lesion of
creatine phosphokinase(CPK)elevated
creatinine, elevated
cry, abnormal
cultured skin fibroblasts
cystinosis
degenerative diseases of CNS
delay in diagnosis
dementia
dementia, childhood
dementia, diagnostic evaluation of
developmental disability
developmental milestones, loss of
developmental retardation
diarrhea
differential diagnosis
difficulty going down stairs
diplopia
distal muscle weakness
drooling
dropped head syndrome
dysarthria
dysmorphic
dysostosis multiplex
dysphagia
dystonia
dystonia, face
dystonia, focal
dystonic lipidosis
echocardiogram
efficacy
electroencephalogram
electroencephalogram, abnormalities of
electromyogram
electron microscopy
enzyme treatment
enzyme, defect
episodic disorders
episodic neurologic deficits
exercise intolerance
exome sequencing
eye movement, disorders of
Fabry's disease
facial appearance, abnormal
falling
familial
Farber's disease
fever
foam cells
fracture, pathologic
Friedreich's ataxia
fucosidosis
gait disorder
galactosidase
gangliosidosis GM1
gangliosidosis GM2
gargoylism
Gaucher's disease
gaze palsy
gaze palsy, supranuclear
gaze palsy, vertical
gene
gene mutation
gene therapy
genetic counselling
genetic diagnosis
genetic diagnosis, prenatal
genetic neurologic disorders
genetic screening
genetic testing
glucocerebrosidase
glycogen storage disease
glycoprotein
growth retardation
hand pain
head injury
hearing loss
heat intolerance
hemorrhagic diathesis
hepatic failure
hepatitis
hepatolenticular degeneration(Wilson's disease)
hepatomegaly
hepatosplenomegaly
heralding manifestation
hexosaminidase-A
hexosaminidase-A and B
high arched feet
Hurler's syndrome
hydrocephalus
hyperreflexia
hypertonia
hypohidrosis
hypomyelination
hypotonia
hypotonia, infants
inattention
inborn errors of metabolism
inborn errors of metabolism, screening
inclusion bodies, intracytopasmic
incoordination
infection, recurrent
intellectual deficit
intellectual deterioration
intelligence quotient
intrathecal medication
Jakob-Creutzfeldt disease
jaundice
Jewish
klippel feil syndrome
Krabbe's disease
kyphoscoliosis, neurologic causes of
lactic acidemia
lead poisoning
learning disability, in children
Leigh's disease
leukocyte enzyme abnormality
leukodystrophy
Lewy body disease, diffuse
life expectancy
limb-girdle weakness
lipid storage disorder of CNS
liver disease
lymphadenopathy
lysosomal storage disease
lysosomes, abnoral
macrocephaly
Marinesco-Sjogren syndrome
megalencephaly
memory, impairment of
meningitis, chronic
mental retardation
metabolic disorder, primary
metabolic disorder, primary-screening tests
metachromatic leukodystrophy
metachromatic leukodystrophy, adult onset
metachromatic leukodystrophy, juvenile
metachromatic leukodystrophy, late-infantile
misdiagnosis
mitral valve prolapse
molecular genetics
mortality
motor neuron disease
movement disorder
movement disorder, extrapyramidal
MRI
MRI, abnormal
MRI, hypointense signal foci on
MRS
mucopolysaccharidoses
multiple sclerosis
multiple sclerosis, differential diagnosis of
muscle biopsy
muscle spasm
muscle wasting, diffuse
muscle weakness
muscle weakness, proximal
muscular dystrophy, Duchenne
myelopathy
myocardial infarction
myoclonus
myopathy
myopathy, vacuolar
N-acetyl-L-aspartic acid
neonatal screening, genetic neurologic disorders
neoplasm, primary of CNS
neuraminidase deficiency
neuroaxonal dystrophy
neuroaxonal dystrophy, infantile
neurofibrillary degeneration
neurolipidosis IV
neurologic complications of, systemic disease
neurologic disease
neurologic disease, diagnoses of
neurologic testing
neuronal ceroid-lipofuscinosis
neuroophthalmology
neuropathic pain scale
neuropathology
neuropathy
neuropathy, demyelinating
neuropathy, painful
neuropathy, small-fiber
neuropathy, small-fiber, painful sensory
neurosis
next-generation sequencing
Niemann-Pick disease
ophthalmoplegia
optic atrophy
optokinetic nystagmus, abnormal
osteopetrosis
pain
pain, neuropathic
Parkinsonism syndrome
paroxysmal neurologic deficits
patient in waiting
pediatric neurology
peroxisomal disease
pes cavus
photophobia
polymerase chain reaction
polyneuropathy
Pompe's disease of glycogen storage
precipitating factors
preclinical
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
prognosis
progressive neurologic disorder
proteinuria
psychiatric problems in neurologic disorders
psychological testing
psychological testing, children
psychomotor retardation
psychosis
quadriparesis
quadriplegia
rectal biopsy
remote effect of cancer on the nervous system
renal failure
respiratory failure
respiratory tract infection
retinal degeneration
retinopathy
retropulsion
review article
rigidity
safety
Salla disease
Sandhoff's disease
schizophrenia
scoliosis, neurologic association with
screening
sea-blue histiocytes
seizure
seizure, children
seizure, laughing as manifestation
sensorineural hearing loss
short stature
sick sinus syndrome
skin, biopsy
skin, lesions in neurologic disorders
slit lamp examination
small vessel disease
spasticity
speech, delayed development of
sphingomyelin
spinal cord, compression of
spinocerebellar degeneration
splenomegaly
startle reaction
stem cell transplantation
subdural hematoma
systemic illness
tandem gait, ataxic
Tay-Sachs disease
thalamus, lesion of
thalamus, lesion of-bilateral
thrombocytopenia
toe walking
tone, muscle, increased
tongue, enlarged
treatment of neurologic disorder
tremor
tremor, intention
tripping
urea-cycle enzymopathies
urinary sulfatidase excretion
urine test for metabolic disorders
vasculopathy
ventricular enlargement
vertebral-basilar insufficiency
vertigo
vision, failure of in childhood
visual acuity, decreased
visual fields, constricted
visual loss
visual loss, transient
Von Hippel Lindau
walking, delayed
walking, difficulty with
weakness
weakness, proximal
white matter disease
wide based gait
Showing articles 100 to 150 of 157 << Previous Next >>

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,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

Dementia of Adult Polyglucosan Body Disease, Evidence of Cortical and Subcortical Dysfunction
Arch Neurol 51:90-94, Rifai,Z.,et al, 1994

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Guillain-Barre Syndrome after Exogenous Gangliosides in Italy
BMJ 307:1463-1464, Landi,G.,et al, 1993

Polyglucosan Body Disease Simulating Amyotrophic Lateral Sclerosis
Neurol 43:785-790, McDonald,T.D.,et al, 1993

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Bovine Gangliosides and Acute Motor Polyneuropathy
BMJ 305:1330-1331, Figueras,A.,et al, 1992

Gangliosides and Neurological Diseases, Their Use in Humans Should be Suspended
BMJ 305:1309-1310, Behan,P.O., 1992

McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992

GM-1 Ganglioside for Spinal-Cord Injury
NEJM 326:493, Schonhofer,P.S., 1992

Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991

Recovery of Motor Function after Spinal-cord Injury-A Randomized, Placebo-Contrlled Trial with GM-1 Ganglioside
NEJM 324:1829-1838, 1885-18871991., Geisler,F.H.,et al, 1991

Muscle Carnitine Deficiency in Patients Using Valproic Acid
J Pediatr 118:646-649, Shapira,Y.&Gutman,A., 1991

Stroke-Like Syndrome, Mineralizing Microangiopathy, and Neuroaxonal Dyst with Intrathecal Methotrexate
Neurol 41:1847-1848, Phanthumchinda,K.,et al, 1991

Lower Motor Neuron Disease in a Patient with Autoantibodies Against Gangliosides GM1 and GD1b:Improvement with Immunotherapy
Neurol 40:842-844, Shy,M.E.,et al, 1990

Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990

Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
Neurol 38:154-155, Tennison,M.B.,et al, 1988

Brief Communication: Psychogenic Sensory Loss
J Nerv Ment Dis 176:686-687, Rolak,L.A., 1988

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Serum Antibodies to GM1 Ganglioside in Amytrophic Lateral Sclerosis
Neurol 38:1457-1461, Pestronk,A.,et al, 1988

Hysterical Conversion Reactions Mimicking Neurological Disease
Am J Dis Child 142:1203-1206, Bangash,I.H.,et al, 1988

Regional Pain is Rarely Hysterical
Arch Neurol 45:915-918, Merskey,H., 1988

McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988

CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987

Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986

Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Treatment of Peripheral Neuropathies
JNNP 48:1193-1207, Hallett,M.,et al, 1985

McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985

Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984

Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984

Nearly Fatal Muscle Carnitine Deficiency with Full Recovery after Replacement Therapy
Neurol 33:1629-1631, Prockop,L.D.,et al, 1983

Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983

Neuroaxonal Dystrophy in Young Adults:A Clinicopathological Study of Two Unrelated Cases
Ann Neurol 11:335-343, Williamson,K.,et al, 1982

Examination of Dental Pulp to Diagnose Infantile Neuroaxonal Dystrophy
Arch Neurol 39:422-423, Carlo,J.,et al, 1982

Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

Lipid Storage Myopathy:Successful Treatment with Propranolol
BMJ 282:1997-1999, Martyn,C.,et al, 1981

Acute Thallium Poisoning, Toxicological & Morphological Studies of the Nervous System
Ann Neurol 10:38-44, Davis,L.E.,et al, 1981

A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
NEJM 304:503-508, Rosenblum,J.L.,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

Diagnosis of Infatile Neuroaxonal Dystrophy by Skin Biopsy
Ann Neurol 7:377-379, Wisniewski,K.,et al, 1980

Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979

Carnitine Deficiency Acute Postpartum Crisis
Ann Neurol 4:558-561, Angelini,C.,et al, 1978

Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978

Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978



Showing articles 100 to 150 of 157 << Previous Next >>