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Differential
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acanthocytosis
adrenoleukodystrophy
adverse drug reaction
alopecia
Alzheimer's disease
anisocoria
anosmia
antiretinal antibodies
aphasia
apraxia of eye movements
areflexia
Argyll Robertson pupil
arrhythmia, cardiac
ataxia
ataxia, cerebellar
ataxia, hereditary
ataxia, progressive
ataxic gait
autoantibodies
Babinski sign
baclofen
basal ganglia
basal ganglia, calcification of
basal ganglia, lesion of
basal ganglia, lesion, bilateral
Bassen-Kornzweig syndrome
battered child syndrome
behavioral disorder
bladder dysfunction
blepharospasm
blindness
bradykinesia
brain atrophy
brain biopsy
brainstem, atrophy
brainstem, hypoplasia
bulbar palsy
cachexia
calcification, intracranial
CAR syndrome
carcinoma
carcinoma of lung
cardiomyopathy
caries
carotid artery occlusion, neck
CAT scan
CAT scan, abnormal
CAT scan, false negative
cataracts
cerebellar ataxia, children
cerebellar atrophy, primary
cerebellar atrophy, secondary
cerebellar degeneration
cerebellar lesion
cerebellar vermis
cerebral cortical atrophy
cerebro hepato renal syndrome
cerebrospinal fluid, elevated protein of
cerebrovascular accident
cerebrovascular accident, young adult
cherry red spot
cherry red spot-myoclonus syndrome
children
chorea
choreoathetosis
chorioretinitis
chromosomal abnormality
chromosome 17
chromosome 20
chronic progressive external ophthalmoplegia
cisterna magna, enlarged
Clinical Pathologic Conference(C.P.C.)
clubfoot as related to neurologic disease
Cockayne's syndrome
coenzyme Q10 deficiency
color vision
color vision, impaired
cone-rod dystrophy
conjunctival biopsy
consanguinity
contractures, joint
cornea, abnormal
cornea, opacity of
corpus callosum
corpus callosum, hypoplastic
cranial nerve palsies
craniopharyngioma
cry, weak
cryptorchidism
cyst
cyst, parenchymal
cyst, subcortical
cytochrome c oxidase
cytochrome c oxidase, deficiency
deafmute
deafness
deep gray nuclei
degenerative diseases of CNS
dementia
developmental abnormality of brain
developmental milestones, loss of
developmental retardation
diabetes insipidus
diabetes mellitus
diarrhea
differential diagnosis
diplegia, spastic cerebral
DNA probes
drug induced neurologic disorders
dwarfism
dysarthria
dysmetria
dysmorphic
dysphagia
dystonia
electrocardiogram, abnormal
electroencephalogram, abnormalities of
electron microscopy
electronystagmography
electroretinograph
enzyme, defect
epidermal nevus syndrome
eye injury
eye movement, disorders of
eyes, sunken
facial appearance, abnormal
falling
false negative
false negative VDRL
familial
fasciculation
fatty acid dehydrogenase deficiency
feeding disorder
fingerprint bodies
fluorescein angiography
fluorescent treponema antibody absorption(FTA-ABS)
foot deformity
fourth ventricle, enlargement of
Friedreich's ataxia
fundus, abnormality of
funduscopic exam
gait disorder
gargoylism
gastrointestinal motility
gaze palsy
gaze palsy, supranuclear
gene
gene mutation
gene therapy
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic testing
glare, light-induced
glaucoma
globus pallidus
globus pallidus, lesion of
globus pallidus, lesion of, bilateral
growth retardation
Hallervorden Spatz disease
Hallervorden Spatz disease, late onset
Hallgren's syndrome
hand flapping
headache
hearing loss
hearing loss, bilateral
hearing loss, congenital
heart block
hepatomegaly
Hurler's syndrome
hydrocephalus
hyperpigmentation of skin
hyperreflexia
hypocholesterolemia
hypogonadism
hypomagnesemia
hypoparathyroidism
hyposmia
hypotonia
imbalance
immunosuppressive agents
inborn errors of metabolism
inclusion bodies
inclusion bodies, intracytopasmic
incoordination
intellectual deficit
intellectual deterioration
internuclear ophthalmoplegia
intestinal pseudoobstruction
iris, atrophy of
iron, brain
Joubert syndrome
Kearns-Sayre syndrome
keratoconus
kyphoscoliosis, neurologic causes of
kyphosis
lactic acidemia
Laurence-Moon-Bardet-Biedl syndrome
Leber's hereditary optic neuropathy
Leigh's disease
lens, dislocation of
lenticular nucleus, lesion of, bilateral
leukocyte enzyme abnormality
leukodystrophy
leukoencephalopathy
light-near dissociation, causes of
lymphocyte fingerprint profiles
lysosomal storage disease
macular degeneration
malabsorption
malformation, CNS, congenital
malformation, vascular
malformation, vascular, cerebral
marche a petits pas
Marcus Gunn pupil
medial longitudinal fasciculus(MLF)
MELAS syndrome
memory, impairment of
mental retardation
MERRF syndrome
microcephaly
mitochondrial disease
mitochondrial encephalomyopathy
MNGIE syndrome
molecular genetics
mortality
motor neuron disease
movement disorder
movement disorder, extrapyramidal
MRI
MRI, abnormal
MRI, CAT scan compared to
MRI, eye of tiger sign
MRI, paramagnetic effect
MRI, serial
MRS
mucopolysaccharidoses
muscle atrophy, progressive
muscle biopsy
myelopathy
myoclonic jerks
myoclonus
myopathy
myopathy, mitochondrial
myopia
nausea and vomiting
neuraminidase deficiency
neuritis
neurocutaneous disease
neuroendocrinology
neuroichthyosis
neurolipidosis IV
neurologic complications of, systemic cancer
neurologic disease, diagnoses of
neurologic signs
neuronal ceroid-lipofuscinosis
neuroophthalmology
neuropathology
neuropathology, brain
neuropathy
neuropathy, ataxia, retinitis pigmentosa
neuropathy, ataxic
neuropathy, hereditary peripheral
neuropathy, hypertrophic
neuropathy, onion bulb
neuropathy, peripheral
neurosyphilis
nevus
night blindness
nystagmus
nystagmus, pendular
obesity
ocular myopathy
ophthalmoplegia
ophthalmoplegia, progressive external
optic atrophy
optic atrophy, hereditary
optic glioma
optic nerve
optic nerve, lesion of
optic nerve, neoplasm of
optic neuropathy
optic neuropathy, hereditary
optical coherence tomography
palilalia
pancytopenia
PANK2 mutation
paraparesis
paraparesis, spastic
Parkinson disease
Parkinsonism syndrome
peroxisomal disease
peroxisomes
pes cavus
photophobia
photosensitivity, eye
photosensitivity, skin
phytanic acid
pigmentary retinopathy
pleocytosis of cerebrospinal fluid
polydactyly
polyneuropathy
Poretti-Boltshauser syndrome
postural abnormality
progeria
prognosis
progressive neurologic disorder
pseudoretinitis pigmentosa
psychiatric disorder
psychiatric problems in neurologic disorders
psychomotor retardation
ptosis
pupil
pupil, abnormality in neurologic disorders
pupil, light reflex, abnormal
putamen, lesion of
putamen, lesion of, bilateral
pyramidal tract
pyramidal tract dysfunction
quadriparesis
quadriplegia
ragged-red fibers
rash
refractive errors
Refsum's disease
remote effect of cancer on the nervous system
retina, abnormal
retinal arteriole attenuation
retinal degeneration
retinal detachment
retinal lesion
retinitis pigmentosa
retinoblastoma
retinopathy
retropulsion
review article
RFLPs
rigidity
Romberg's sign
roving eye movements
schizophrenia
scotoma
scotoma, central
scotoma, paracentral-homonymous
sea-blue histiocytes
sedimentation rate, elevated
seizure
seizure, children
seizure, neonatal
sensorineural hearing loss
sensory loss
serologic test for syphilis
sheathing of retinal veins
short stature
Sjogren-Larsson syndrome
skin, biopsy
skin, lesions in neurologic disorders
skull x-ray, abnormal
spastic diplegia
spasticity
speech disorder
speech disorder, childhood
Spielmeyer Vogt syndrome
spinocerebellar ataxia
spinocerebellar ataxia type 1
spinocerebellar ataxia type 7
spinocerebellar degeneration
spongy degeneration of brain
steatorrhea
steroid
steroid therapy, CNS treatment and complications with
stooped posture
substantia nigra
sudden death
syphilis, diagnosis and treatment
syphilis, neurologic complications with
syphilis, ocular
tabes dorsalis
Tangier's disease
tapetoretinal degeneration
third nerve palsy
titubation
trauma
treatment of neurologic disorder
tremor
trinucleotide repeats
Usher's syndrome
uveitis
ventricular enlargement
vision loss, sequential
vision, blurred
vision, failure of in childhood
visual acuity
visual acuity, decreased
visual acuity, decreased, monocular
visual evoked response
visual field defect
visual field defect, altitudinal
visual fields, constricted
visual impairment
visual loss
visual loss, progressive
visual loss, slow
visual loss, sudden
vitamin A
vitamin deficiency
vitamin E
vitamin E deficiency
vitamin K
vitritis
walking, difficulty with
weakness
weight loss
white matter disease
wide based gait
Wolfram syndrome
workup
Showing articles 0 to 50 of 104 Next >>

A Woman with Progressive Painless Sequential Monocular Vision Loss
Neurol 101:e2197-e2201, Ditrapani,J.,et al, 2023

Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022

A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021

Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018

Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017

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

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993

Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992

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

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990

A Clinical Triad to Diagnose Paraneoplastic Retinopathy
Ann Neurol 28:162-167, Jacobson,D.M.,et al, 1990

A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
Neurol 40:1359-1363, Coppeto,J.R.&Lessel,S., 1990

Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989

A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989

Cancer-Associated Retinopathy (Car Syndrome) with Antibodies Reacting with Retinal, Optic-Nerve, and Cancer Cells
NEJM 321:1589-1594, 1607-16081989., Thirkill,C.E.,et al, 1989

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

Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988

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

Paraneoplastic Syndromes Involving the Eyes
In Walsh & Hoyt's Clin Neuro-ophthal, 4th ed, Williams & Wilkins, Vol 3, p 1735-1746, Miller,N.R., 1988

Optic-Nerve Degeneration in Alzheimer's Disease
NEJM 315:485-487, Hinton,D.R.,et al, 1986

Tangier Disease (Hypo-a-Lipoproteinemia)
Textbook of Child Neurology, 3rd Ed. , Phila, Lea & Febiger, Ch 1, p 86, Menkes,J.H., 1985

Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985

Small Bowel Resection with Vitamin E Deficiency & Progressive Spinocerebellar Syndrome
Neurol 34:1046-1052, Bertoni,J.M.,et al, 1984

Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983

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

Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981

Heredopathia Atactica Polyneuritiformis
Arch Neurol 38:605-606, Refsum,S., 1981

Progressive Bulbar Paralysis Associated With Neurgl Deafness, A Nosological Entity
Arch Neurol 37:214-216, Alberica,R.,et al, 1980

Abetalipoproteinemia, Report of Two Cases & Review of Therapy
Arch Neurol 37:659-662, Illingworth,D.R.,et al, 1980

Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980

Basal Ganglia Calcification in Kearns-Sayre Syndrome
Arch Neurol 36:711-713, Robertson,W.C.Jr., 1979

Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978

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

Neurological Involvement in the Epidermal Naevus Syndrome
JNNP 41:466, McAuley,D.L.,et al, 1978

Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978

Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978

Tapetoretinal Degeneration in Childhood Presenting as a Disturbance of Behavior
BMJ 202, 1972 Jan., Harcourt,B.,et al, 1972

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Neurocutaneous Disease
in Dermatology in General Medicine, Fitzpatrick, et al, eds, McGraw Hill, 1971, pp. 1379-1434., Adams,R., 1971



Showing articles 0 to 50 of 104 Next >>