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Differential
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abortion, spontaneous
acromegaly
acromicria
adrenoleukodystrophy
adverse drug reaction
agenesis of corpus callosum
aggression
alcohol
alcohol, neurologic complications with
alveolar hypoventilation
amniocentesis
Andersen syndrome
anemia
anesthesia, general
Angelman syndrome
angiography, cerebral
angiokeratoma
ankle edema
anosmia
anticoagulant, complications of
anticonvulsants
anticonvulsants, blood level determination of
anticonvulsants, teratogenicity of
anticonvulsants, untoward effects of
areflexia
arm weakness
arrhythmia, cardiac
arteriopathy
arylsulfatase B
ascites
aspiration
ataxia
ataxia, cerebellar
ataxia, hereditary
ataxic gait
attention deficit disorder with hyperactivity
attention span
atypical
autism
autonomic dysfunction
Babinski sign
baldness
basal ganglia, calcification of
basilar impression
behavior, combative
behavioral disorder
blinking
blinking, reduced
bone age
bone density
bone density, increased
bone marrow transplantation
brachial neuritis
brachial neuritis, acute
brachial neuritis, bilateral
brachial plexus neuropathy
brachial plexus neuropathy, bilateral
brachial plexus neuropathy, familial
brachial plexus neuropathy, recurrent
brachycephaly
bradykinesia
bradykinesia, facial
brain atrophy
brain weight
brainstem, lesion of
breech delivery
cachexia
calcification, intracranial
carbamazepine
cardiomyopathy
caries
carpal tunnel syndrome
CAT scan
CAT scan, abnormal
cataracts
cerebellar atrophy, primary
cerebellar atrophy, secondary
cerebellar degeneration
cerebellar vermis
cerebral arteries
cerebral cortical atrophy
cerebral infarction
cerebral vasculature
cerebro hepato renal syndrome
cerebrovascular accident
cerebrovascular accident, infancy and childhood
cerebrovascular accident, young adult
cerebrovascular disease
ceruloplasmin, serum
chewing, impaired
children
chondrodysplasia punctata
chromosomal abnormality
chromosome 15
chromosome 17
chromosome 19
chromosome 9
chronic graft versus host disease
cisterna magna, enlarged
cleft lip
cleft palate
Clinical Pathologic Conference(C.P.C.)
clinodactyly
clubfoot as related to neurologic disease
Cockayne's syndrome
codfish vertebrae
Coffin-Siris syndrome
cold temperature
collagen vascular disease
congenital birth defects
congenital heart disease
congenital heart disease, CNS complications with
congenital malformation
congenital malformation, dilantin therapy causing
congenital malformation, non CNS
congenital myopathy
consanguinity
contractures, joint
cornea, abnormal
cornea, opacification in infancy-causes of
cornea, opacity of
Cornelia de Lange syndrome
corpus callosum
corpus callosum, atrophy of
cost effectiveness
cranial neuropathy, multiple
creatine phosphokinase(CPK)elevated
cry, abnormal
cry, weak
cryptorchidism
cultured skin fibroblasts
cyanosis
cyst, porencephalic
cystinuria
Dandy Walker malformation
deafness
deep tendon reflexes
dementia
depression
dermatoglyphics
developmental abnormality of brain
developmental retardation
diabetes mellitus
diet
differential diagnosis
digits, abnormal
dilantin
dilantin, toxicity
diplopia
dislocated hip, congenital
dissociated sensory loss
distal muscle weakness
DNA probes
doppler, transcranial
drooling
dropped head syndrome
dwarfism
dysarthria
dysdiadochokinesia
dysmorphic
dysostosis multiplex
dysphagia
dyspnea
dyspraxia
dystonia
dystonia, face
ear, abnormal
eating disorder
echocardiogram
edema, pedal
electrocardiogram, abnormal
electroencephalogram
electroencephalogram, abnormalities of
electromyogram
enzyme treatment
enzyme, defect
epicanthal folds
epidermal nevus syndrome
epoxide hydrolase
esophageal varices
exercise
eye closure
eyebrows, abnormal
eyes, sunken
face, elongated
facial anomalies
facial appearance, abnormal
facial expression abnormality
facial hypoplasia
facial nerve palsy
facial weakness
facial weakness, bilateral
failure to thrive
familial
fatigable chewing
fatigue
fatty acid, elevated plasma content
feeding disorder
fetal alcohol syndrome
fetal valproate syndrome
fetus
fingernails, abnormal
fingernails, hypoplastic
fish
fluorescene in situ hybridization
fragile-X syndrome
fragile-X syndrome, carrier
frataxin
Friedreich's ataxia
frontal balding
frontal bossing
fucosidosis
gait disorder
galactorrhea
gangliosidosis GM1
gangliosidosis GM2
gene
gene mutation
genetic counselling
genetic diagnosis
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
genital hypoplasia
glycoprotein
growth hormone
growth hormone deficiency
growth retardation
hairline, abnormal
hand flapping
head circumference
headache
hearing loss
heart block
heart murmur
hemorrhage, intracranial, newborn
hemorrhage, periventricular
hemorrhagic diathesis
hepatic encephalopathy
hepatic failure
hepatolenticular degeneration(Wilson's disease)
hepatolenticular degeneration(Wilson's disease), presymptomatic
hepatomegaly
hepatosplenomegaly
heralding manifestation
heterotopia
high arched palate
hirsutism
histochemistry of muscle
holoprosencephaly
homocystinuria
Hunter's syndrome
Hurler's syndrome
hydranencephally
hydrocephalus
hyperactivity
hypercalcemia
hypercapnia
hyperhidrosis
hyperhomocysteinemia
hyperphagia
hyperpigmentation of skin
hyperreflexia
hypertelorism
hypertension
hypertonia
hypertrichosis
hypertrophic cardiomyopathy
hypoalbuminemia
hypogonadism
hypomyelination
hypophonia
hypopigmentation of skin
hypoplastic left heart syndrome
hypotelorism
hypothyroidism
hypothyroidism, congenital
hypotonia
hypotonia, infants
imbalance
inclusion bodies
inclusion bodies, intracytopasmic
infection, recurrent
insulin resistance
intellectual deficit
intellectual deterioration
intelligence quotient
intracranial hemorrhage
intracranial pressure, increased
intrauterine
iodine deficiency
joint hypermobility
karyotyping
Kayser-Fleischer ring
Krabbe's disease
kyphoscoliosis, neurologic causes of
kyphosis
laughing, pathologic
learning disability, in children
leg weakness, bilateral
lens, dislocation of
lens, ectopic
leukodystrophy
leukopenia
libido, decreased
lid closure, weakness of
life expectancy
lip, abnormal
lipid storage disorder of CNS
lissencephaly
livedo reticularis
liver function enzymes
low birth weight
lysosomal storage disease
lysosomes, abnoral
macrocephaly
macrognathia
malformation, CNS, congenital
malformation, vascular
masked facies
melanomatosis, primary malignant
mental retardation
mental retardation, familial
metabolic disorder, primary
metachromatic leukodystrophy
micrencephaly
microcephaly
microdontia
micrognathia
micromelia
micropolygyria
microspherophakia
middle cerebellar peduncle
middle cerebellar peduncle, lesion, bilateral
midline defect in children
misdiagnosis
mitral valve lesion
molecular genetics
molybdenum cofactor deficiency
mortality
movement disorder
MRI
MRI, abnormal
MRI, angiography
mucopolysaccharidoses
mucopolysacchariduria
multicore myopathy
multiple system atrophy
muscle atrophy, focal
muscle atrophy, progressive
muscle biopsy
muscle wasting, diffuse
muscle weakness
muscle weakness, proximal
muscular dystrophy
muscular dystrophy, cardiovascular changes with
mutism
myasthenia gravis
myasthenic sneer
myelopathy
myopathy
myopia
myotonia
myotonia dystrophica
myotonia dystrophica, classification
myxedema, neurologic manifestations of
nasal bridge, wide
nasal regurgitation
nasal speech
neck weakness
neck, webbed
neoplasm, metastatic to CNS
neuroendocrinology
neuroichthyosis
neurologic disease, diagnoses of
neurologic evaluation
neurologic signs
neurologic symptoms
neuropathology
neuropathology, brain
neuropathy
neuropathy, hereditary peripheral
Niemann-Pick disease
Noonan Syndrome
nose, abnormal
obesity
oculodentodigital dysplasia
oligodactyly
ophthalmoplegia
ophthalmoplegia, progressive external
ophthalmoplegia, total
optic atrophy
optic nerve
optic nerve, hypoplasia of
optic neuropathy
oropharyngeal weakness
osteogenesis imperfecta
osteoporosis
otosclerosis
pachygyria
pain
pain, severe
palpebral fissure, short
papilledema
paraparesis
paraparesis, spastic
Parkinson disease
Parkinson disease, atypical
pectus carinatum
pectus excavatum
penicillamine
percussion induced muscle contraction
periodic paralysis
periventricular leukomalacia
peroxisomal disease
peroxisomes
personality change
pes cavus
phenobarbital
philtrum, hypoplastic
phocomelia
photosensitivity, skin
pigmentary retinopathy
pituitary, adenoma
polycystic kidneys
polyhydramnios
postural abnormality
Potter syndrome
Prader-Labhart-Willi syndrome
precipitating factors
pregnancy, anticonvulsants during
pregnancy, neurologic complications in
premature infant
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
progeria
prognathism
prognosis
progressive supranuclear palsy
prolactin, elevated
proximal muscle atrophy
psychiatric disorder
psychiatric problems in neurologic disorders
psychological testing
psychological testing, children
psychomotor retardation
psychosis
psychosocial aspects
ptosis
ptosis, bilateral
puerperium
pulmonary stenosis
pupil, abnormality in neurologic disorders
pupil, ectopic-congenital
pyramidal tract dysfunction
quadriparesis
quadriplegia
rash
recurrent
Refsum's disease
renal stones
respiratory failure
retinal degeneration
retinopathy
review article
RFLPs
rhizomelia
rigidity
risk factors
root lesion, nerve
saddle nose
sclerae, blue
sclerosteosis
scoliosis
scoliosis, neurologic association with
screaming
seizure
seizure, children
seizure, familial
seizure, injury following
seizure, intractable
seizure, neonatal
seizure, pregnancy
sensorineural hearing loss
short neck
short stature
simian crease
skin, biopsy
skin, lesions in neurologic disorders
skull x-ray, abnormal
skull x-ray, bony defect on
slit lamp examination
smiling
sodium valproate
sodium valproate, toxicity
Southern immunoblot test
speech disorder
speech disorder, childhood
speech, delayed development of
spinal cord, compression of
splenomegaly
stem cell transplantation
stimulant drugs
stooped posture
strabismus
suck, poor
sudden death
symmetric brain lesions
syndactyly
synophrys
syringobulbia
syringomyelia
teeth, abnormal
teeth, wide-spaced
temper tantrums
temporalis muscle wasting
temporalis muscle weakness
temporomandibular joint, dislocation
teratogenesis
teratogenic drugs
testicular enlargement
thrombocytopenia
tongue, enlarged
tongue, protrusion of
transverse smile
treatment of neurologic disorder
tremor
tremulousness
trichopoliodystrophy
trientine dihydrochloride
trigeminal nerve, lesion of
trigeminal neuropathy
trimethadione
trinucleotide repeats
trisomes
trisomy 9p
undiagnosed
uric acid, low
urinary incontinence
valvulopathy
visual impairment
visual loss
voice, abnormality of
vomiting, recurrent
weakness
weakness, fatiguable
weakness, generalized
weakness, progressive
weakness, proximal
wheelchair
white matter disease
wide based gait
Williams syndrome
winging of scapula
x-linked mental retardation
zinc
Showing articles 0 to 50 of 64 Next >>

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

The Face of Myasthenia Gravis
Neurol 95:89-90, Ruiter, A.M.,et al, 2020

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Clinical Manifestations of Myasthenia Gravis
UptoDate Aug 2016, Bird, S.J., 2016

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014

Facial Bradykinesia
JNNP 84:681-685, Bologna, M.,et al, 2013

Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007

Prenatal Exposure to Antiepileptic Drugs
Lancet 367:1467-1469, Perucca,E. &Tomson,T., 2006

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

MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001

The Exercise Test in Andersen Syndrome
Arch Neurol 56:352-356, Katz,J.S.,et al, 1999

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996

Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
Neurol 46:1128-1132, Pellegrino,J.E.,et al, 1996

The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996

A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996

Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
J Pediatr 126:945-958, Soper,R.,et al, 1995

Perinatal Brain Injury in Premature Infants Born to Mothers Using Alcohol in Pregnancy
Pediatrics 95:66-73, Holzman,C.,et al, 1995

Acromegaly:Clinical and Biochemical Features in 500 Patients
Medicine 73:233-240, Ezzat,S.,et al, 1994

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Fetal Alcohol Syndrome and Fetal Alcohol Effects
Comm of Substance Abuse & Comm on Children with Disabilitites, Pediatrics 91:1004-100693., , 1993

Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Fetal Alcohol Syndrome in Adolescents and Adults
JAMA 265:1961-1967, Streissguth,A.P.,et al, 1991

MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990

Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
Pediatrics 85:984-990, Glauser,T.A.,et al, 1990

Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
NEJM 322:1567-1572, Buehler,B.A.,et al, 1990

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

Pattern of Malformations in the Children of Women Treated with Carbamazepine During Pregnancy
NEJM 320:1661-1666, Jones,K.L.,et al, 1989

Brain Malformations in Linear Nevus Sebaceous Syndrome:An MR Study
J Comput Assist Tomogr 12:338-340, Sarwar,M.&Schafer,M.E., 1988

Minor Anomalies in Offspring of Epileptic Mothers
J Pediatr 112:521-529, 579-5811988., Gaily,E.,et al, 1988

The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988

Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985

Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985

Coffin-Siris Syndrome, Neuropathologic Findings
Arch Neurol 42:350-353, DeBassio,W.A.,et al, 1985

Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
Ann Neurol 18:665-669, Wisniewski,K.E.,et al, 1985

The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984



Showing articles 0 to 50 of 64 Next >>