Neudle.com: seizure hereditary

Differential
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abducens nerve paralysis

abortion, spontaneous

abscess, intracerebral

abscess, intracranial

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

advances in neurology

adverse drug reaction

agenesis of corpus callosum

alcohol, neurologic complications with

Alexanders disease

Alexanders disease, adult onset

algorithm

alkylating agents

alopecia

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

Alzheimer's disease

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, pathogenesis

Alzheimer's disease, treatment of

amyloid angiopathy, cerebral

amyloid angiopathy, hereditary cystatin C

amyloid beta protein

amyloid imaging

amyloidosis

amyloidosis, oculoleptomeningeal, familial

amyotrophic chorea-acanthocytosis

anemia

anesthesia, general

aneurysm

aneurysm, intracranial, screening for

Angelman syndrome

angiofibroma, facial

angiography, cerebral

anterior horn cell disease

antibiotic prophylaxis

antibodies to voltage-gated calcium channels

anticholinesterase

anticonvulsants

anticonvulsants, discontinuation in seizure-free epileptics

anticonvulsants, effectiveness

anticonvulsants, hypersensitivity syndrome

anticonvulsants, selection of

anticonvulsants, teratogenicity of

anticonvulsants, untoward effects of

antimetabolite

antioxidant

antiphospholipid antibodies

apnea, primary central

apolipoprotein E

APP gene

apraxia

apraxia, constructional

arteriovenous malformation

arteriovenous malformation, cerebral

attention deficit disorder with hyperactivity

attention span

atypical

auditory and vestibular pathways

aura

autism

autistic behavior

autonomic dysfunction

autosomal dominant nocturnal frontal lobe epilepsy

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

behavior modification

behavior, combative

behavioral disorder

benign essential tremor

benign familial neonatal convulsions

beta adrenergic blocker

bilateral periventricular nodular heterotopia

biologic markers

biotin

biotin deficiency

biotin deficiency, juvenile form

biotinidase deficiency

biotin-responsive basal ganglia disease

blindness

blindness, congenital

blood dyscrasias, neurologic findings with

blue rubber bleb nevus syndrome

body odor

bone marrow biopsy

bone marrow transplantation

bone pain

botulinum toxin

bovine spongiform encephalopathy

brainstem, neoplasms of

brainstem, vascular malformation of

bulbar palsy

buphthalmos

burning feet

burst suppression pattern, electroencephalogram

cafe au lait spots

CAG repeats

calcification, gyral

calcification, intracranial

calcium channel dysfunction

carotid artery occlusion, bilateral

CAT scan

CAT scan, abnormal

CAT scan, abscess, cerebral

CAT scan, chest

CAT scan, contrast enhanced

CAT scan, demyelinating disease

CAT scan, emission

CAT scan, emission, abnormal

CAT scan, false negative

CAT scan, isodense lesion with acute hemorrhage

catalepsy

cataplexy

cataracts

cataracts, congenital

caudate nucleus, atrophy

cavernous hemangioma

central core disease

central nervous system, infection of

cerebellar ataxia, children

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemangioma

cerebellar hemorrhage

cerebellar lesion

cerebellar plaques, amyloid

cerebellar vermis

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortex

cerebral cortical atrophy

cerebral edema

cerebral embolism

cerebral infarction

cerebral infarction, subcortical

cerebral vasculature, calcification

cerebral venous thrombosis

cerebritis

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, culture of, viral

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, gammaglobulin of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, protein of

cerebrospinal fluid, red cells in

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, neonatal

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, nonarterial territory

cerebrovascular accident, recurrent

cerebrovascular accident, work up for

cerebrovascular accident, young adult

cerebrovascular disease

cerebrovascular disease, surgical treatment of

ceruloplasmin, serum

channelopathy

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

cherry red spot

cherry red spot-myoclonus syndrome

chewing movements

chewing, impaired

children

chloride channel dysfunction

choreoathetosis, paroxysmal

chromosomal abnormality

chronic progressive external ophthalmoplegia

cirrhosis

cisterna magna, enlarged

cleft lip

cleft palate

Clinical Pathologic Conference(C.P.C.)

clonazepam

clonus

clubbing of fingers

cobalamin C deficiency

coin lesion on chest X-ray

cold hands sign

colloid cyst

color vision, impaired

compression neuropathy

confabulation

confusion

congenital heart disease

congenital heart disease, CNS complications with

congenital infection, CNS

congenital infection, viral

congenital malformation

congenital malformation, non CNS

congestive heart failure

controversies in neurology

copper metabolism, abnormal

cornea, abnormal

corpus callosum

corpus callosum, atrophy of

corpus callosum, hypoplastic

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cortical blindness, transient

cortical infarction

cranial nerve enhancement

cranial nerve palsies

cranial neuropathy

cranial neuropathy, multiple

craniopharyngioma

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

cultured skin fibroblasts

cyst, epidermoid of CNS

cyst, neoplastic cerebellum

cytomegalovirus infection

degenerative diseases of CNS

delay in diagnosis

dementia

dementia, cerebrovascular disease causing

dementia, childhood

dementia, differential diagnosis of

dementia, familial

dementia, presenile

dementia, rapidly progressive

dementia, thalamic

dementia, transmissible

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

dermatoglyphics

developmental abnormality of brain

developmental disability

developmental evaluation

developmental milestones

developmental milestones, loss of

developmental retardation

developmental venous anomalies

diabetes insipidus

diabetes mellitus

diabetes mellitus, neurologic manifestations of

diagnostic criteria

diarrhea

diet

differential diagnosis

dilantin

dilantin, hypersensitivity to

dilantin, toxicity

diplopia

disability, neurological

disease modifying agents

distal muscle atrophy

distal muscle weakness

dural sinus thrombosis

dyssynergia cerebellaris myoclonica

dystonia

dystonia, face

dystonia, painful

dystonia, treatment of

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

electroencephalogram, monitoring, continuous

electroencephalogram, periodic complexes

electroencephalogram, video monitoring with

electromyogram

electron microscopy

electroretinograph

embolism, paradoxical

encephalopathy, acute necrotizing

encephalopathy, acute necrotizing of childhood

encephalopathy, metabolic

encephalopathy, neonatal

encephalopathy, progressive

endovascular therapy

entrapment neuropathy

enzyme, defect

ependymoma

epicanthal folds

epidemiology of neurology

epidermoid

epileptic encephalopathy

episodic disorders

episodic neurologic deficits

epistaxis

epsilon sarcoglycan gene

esophageal varices

evoked potentials

excitotoxin

executive dysfunction

exercise

exercise intolerance

exome sequencing

eye movement, disorders of

eye, pain in

Fabry's disease

facial anomalies

facial appearance, abnormal

facial expression abnormality

facial hypoplasia

facial nerve palsy

facial nerve palsy, bilateral

familial adult myoclonic epilepsy

familial hemiplegic migraine

familial rectal pain

FARS2 deficiency

fasciculation

fatal familial insomnia

fatigue

fatty acid, elevated plasma content

fine motor function, impaired

finger nose finger test

fistula, arterio-venous

fistula, arterio-venous, dural

fistula, arterio-venous, pulmonary

fluctuate

flunarizine

fluorescene in situ hybridization

frontal lobe, behavior with disease of

fucosidosis

fundus, abnormality of

gamma amino butyric acid

gastrointestinal bleeding

Gaucher's disease

Gaucher's disease, adult onset

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

glioblastoma multiforme(astrocytoma Gr.III)

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

GLUT1

GLUT1 deficiency syndrome

granular osmiphilic material

granulomatosis with polyangiitis

grasp reflex

grimacing

growth hormone

growth hormone deficiency

growth retardation

guanidinoacetate methyltransferase deficiency

gynecomastia

gyrus, abnormal

Hallervorden Spatz disease

Hallgren's syndrome

hallucination

hallucination, visual

hearing loss, bilateral

hearing problems in children

hemangioma, brainstem

hemangioma, facial

hemangioma, internal organs

hemangioma, leptomeningeal

hemangioma, skin

hematuria, gross

hematuria, microscopic

hemianopia

hemihypertrophy, congenital

hemiparesis

hemiplegia

hemophagocytic lymphohistiocytosis

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hemoptysis

hemorrhagic diathesis

hepatic encephalopathy

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), screening for

hepatomegaly

hepatosplenomegaly

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

herpes simplex encephalitis

herpes simplex encephalitis, differential diagnosis of

human immunodeficiency virus type 1

Huntington's chorea

Huntington's disease, children

Hurler's syndrome

hydrocephalus

hydrocephalus, communicating

hyperactivity

hyperekplexia

hyperglycinemia

hyperglycinemia, nonketotic

hyperhidrosis

hyperhomocysteinemia

hyperphagia

hyperpigmentation of skin

hyperreflexia

hypersensitivity reaction

hypertrophic cardiomyopathy

hypopigmentation of skin

hypoxic-ischemic leukoencephalopathy

hypsarrhythmia

iatrogenic neurologic disorders

inappropriate antidiuretic(A.D.H.)hormone, CNS involvement with

inappropriate behavior

inattention

inborn errors of metabolism

inborn errors of metabolism, screening

incidental finding

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, intracytopasmic

incontinentia pigmenti

incoordination

infantile bilateral striatal necrosis

intellectual deficit, treatable causes of

intellectual deterioration

intelligence quotient

intestinal pseudoobstruction

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracerebral hemorrhage, lobar

intracerebral hemorrhage, recurrent

intracranial pressure, increased

intrathecal chemotherapy

intrauterine infection

intraventricular hemorrhage

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, variant

Jakob-Creutzfeldt disease, young adult

jaundice

jaw pain

Jervell Lange-Neilson syndrome

Jewish

joint hypermobility

juvenile myoclonus epilepsy

karyotyping

Kayser-Fleischer ring

KCNQ2 encephalopathy

Kearns-Sayre syndrome

keratoconus

ketogenic diet

Korsakoff's psychosis

Krabbe's disease

kyphoscoliosis, neurologic causes of

Laurence-Moon-Bardet-Biedl syndrome

learning disability, in children

Leber's hereditary optic neuropathy

Leigh's disease

Leigh's disease, adult variety

lens, dislocation of

lens, ectopic

lenticular nucleus, lesion of, bilateral

lethargy

leukemia, neurologic findings assoc.with

leukodystrophy

leukoencephalopathy

leukoencephalopathy with calcification and cysts

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

level of consciousness, decreased

Lhermitte-Duclos disease

lipid storage disorder of CNS

lipomembranous polycystic osteodysplasia

liver function enzymes

liver transplantation

lymphoma, primary of CNS

lysosomal storage disease

macrocephaly

macrognathia

macular degeneration

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malformation, vascular, familial

malformation, vascular, screening for

malformation, vascular, treatment of

malformation, Vein of Galen

malignant hyperpyrexia

marche a petits pas

medulloblastoma

megalencephaly

melanomatosis, primary malignant

MELAS syndrome

memory, defect of recent

memory, impairment of

meningeal enhancement

meningioma

meningismus

meningitis

meningitis, carcinomatous

meningitis, CSF cell count-normal

meningoencephalopathy

mental retardation

mental retardation, etiology of

mental retardation, familial

MERRF syndrome

mesial temporal lobe

mesial temporal lobe epilepsy

mesial temporal sclerosis

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methotrexate

methylhydrazine derivatives

methylmalonic acidemia

methylmalonic aciduria

metoprolol

Mexican

mexiletine

microangiopathy, brain

microcephaly

microdontia

micrognathia

microhemorrhage, intracerebral

microspherophakia

microsurgery

midbrain, lesion of

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

middle cerebral artery territory infarction

middle cerebral artery, occlusion of

miglustat

migraine

migraine, aura of

migraine, without headache

migratory lesion pattern

mild cognitive impairment

mimics

Minamata disease

Mini Mental Status Examination

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

molecular genetics

molybdenum cofactor deficiency

mongolism

monoamine oxidase inhibitors

mononeuropathy multiplex

movement disorder, extrapyramidal

movement disorder, hyperkinetic

movement disorder, paroxysmal

movement disorder, treatment of

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, cranial nerves

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, fetal

MRI, FLAIR

MRI, gradient-echo

MRI, incidental finding

MRI, susceptibility weighted

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle weakness, proximal

mutism

myasthenia gravis, differential diagnosis

myasthenia gravis, misdiagnosis of

myelination of nervous system

myelomalacia

myelopathy

myelopathy, chronic progressive

myoclonus, stimulus sensitive

myokymia

myopathy

myopathy, mitochondrial

neonatal epilepsy syndromes

neonatal epileptic encephalopathy

neoplasm, intracranial

neoplasm, intracranial-incidence and epidemiology of

neoplasm, metastatic to CNS

neoplasm, metastatic to CNS-treatment of

neoplasm, primary intracerebral

neoplasm, primary intracerebral, reoperation

neoplasm, primary intracranial

neoplasm, primary intracranial-treatment of

neoplasm, primary of CNS

neoplasm, primary of CNS-children

neoplasm, primary of CNS-familial occurrence

neoplasm, primary of CNS-incidence of

neoplasm, primary of CNS-surgical treatment of

neoplasm, primary of CNS-treatment of

nerve biopsy

nerve conduction studies

neuraminidase deficiency

neuritis

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neuroaxonal leukodystrophy

neurocutaneous disease

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neuronal ceroid-lipofuscinosis

neuronal migration disorder

neurons

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, hereditary peripheral

neuropathy, peripheral

neuropathy, vasculitic, systemic

nevoid basal cell carcinoma syndrome

nevus

next-generation sequencing

occipital lobe, lesion of

ocular myopathy

oculodentodigital dysplasia

oligodendroglioma

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic atrophy

optic atrophy, hereditary

optic glioma

optic nerve, enlarged

optic nerve, hypoplasia of

optic nerve, lesion of

optic neuropathy

optokinetic nystagmus, abnormal

orbit

orbit, lesions of

orthostatic hypotension

paramyotonia congenita

paranoia

paraparesis

paraparesis, familial spastic

paraparesis, spastic

paraparesis, spastic, tropical

paratonia

paresthesias

Parkinson disease

Parkinson disease, dystonia with

Parkinson disease, surgical treatment of

Parkinson disease, treatment of

Parkinsonism syndrome

paroxysmal dystonic choreoathetosis

paroxysmal extreme pain disorder

paroxysmal hemiplegia

paroxysmal kinesigenic dyskinesia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

patient information and support

pectus excavatum

penicillamine

percussion induced muscle contraction

periodic paralysis

periventricular leukomalacia

pigmentary retinopathy

Pittsburgh Compound B

pituitary, adenoma

pituitary, hormones of

pleocytosis of cerebrospinal fluid

poison, mercury

poison, neurologic problems with

POLG1 gene

polycystic kidneys

polycythemia, secondary

polydactyly

polyhydramnios

polymerase chain reaction

polyneuropathy

polyps, gastrointestinal tract

pons, atrophy

pons, lesion of

pontocerebellar atrophy

potassium channel antibodies

potassium channel dysfunction

practice guidelines

Prader-Labhart-Willi syndrome

precipitating factors

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

premature infant

prenatal diagnosis by amniocentesis

pretectal syndrome

prethrombotic state

primary episodic ataxia

primary familial brain calcification

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

progressive pallidum atrophy

prolactin, elevated

propranolol

protein 14-3-3, cerebrospinal fluid

pseudohypoparathyroidism

pseudoretinitis pigmentosa

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychomotor retardation

psychosis

psychosis, acute

PTEN hamartoma tumor syndrome

ptosis

ptosis, bilateral

pulmonary embolism

pulmonary infiltrates

pulmonary stenosis

pupil, dilated, bilateral

pupil, dilated, episodic

putamen, lesion of

putamen, lesion of, bilateral

pyramidal tract

pyramidal tract dysfunction

pyridoxine

pyridoxine deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

rash

reading problem, causes of

real-time quaking-induced conversion

respiratory tract infection

reversible neurologic disorder

review article

rhabdomyoma, cardiac

rhabdomyosarcoma of heart

rigidity

risk factors

risk factors, modification

salivation, excessive

scoliosis, neurologic association with

seizure, bathing induced

seizure, cardiac arrhythmia causing

seizure, children

seizure, classification of

seizure, complications following

seizure, crying as manifestation of

seizure, diagnosis of

seizure, differential diagnosis of

seizure, drug resistance

seizure, incidence of

seizure, injury following

seizure, intractable

seizure, laughing as manifestation

seizure, maternal

seizure, neonatal

seizure, nocturnal

seizure, nonepileptic

seizure, paradoxical

seizure, photosensitive

seizure, precipitating factors

seizure, prevalence of

seizure, prognosis in adults

seizure, prognosis in childhood

seizure, psychomotor-temporal lobe

seizure, psychosocial aspects of

seizure, pyridoxine dependent

seizure, risk factors for

seizure, stimulus sensitive

seizure, surgical treatment of

seizure, teenager

seizure, tonic-clonic

seizure, treatment of

seizure, workup of

self-mutilation

semialdehyde dehydrogenase deficiency

senile plaques

sensorineural hearing loss

single photon emission computed tomography

Sjogren-Larsson syndrome

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

skull x-ray, abnormal

sleep

sleep pathology and physiology

small vessel disease

small vessel disease, cerebral

smiling

Sneddon's syndrome

sodium channel dysfunction

speech disorder, childhood

speech, absence of

speech, delayed development of

speech, loss of

sphingolipodoses

Spielmeyer Vogt syndrome

spinal cord

spinal cord, lesion of

spinal cord, neoplasm

spinal cord, vascular malformation of

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 16

spinocerebellar ataxia type 6

spinocerebellar ataxia type 7

splenomegaly

spondylolysis

spongy degeneration of brain

steroid therapy, CNS treatment and complications with

stimulant drugs

stimulation, deep brain

storage disease of CNS

strabismus

straight sinus

striatonigral degeneration

striatonigral degeneration, infantile

striatum, lesion of

striatum, lesion of, bilateral

striopallidodentate calcifications, familial idiopathic

strokelike episodes

stuporous

Sturge-Weber syndrome

stuttering

subarachnoid hemorrhage

sulfite oxidase deficiency

superior sagittal sinus thrombosis

symmetric brain lesions

tapetoretinal degeneration

telangiectases, retinal

temper tantrums

temporal lobe, lesion

testicular enlargement

thalamotomy

thalamotuberal artery

thalamus, atrophy of

thalamus, lesion of

thalamus, lesion of-bilateral

thromboangiitis obliterans cerebri

tongue, protrusion of

toxins, nervous system

transient ischemic attack

transient ischemic attack, recurrent

transient neurologic deficit

trauma

treatment of neurologic disorder

tremor, surgical treatment of

tremor, treatment of

tremulousness

trichopoliodystrophy

trinucleotide repeats

tuberous sclerosis, screening for

tubulopathy

twins

unconsciousness

unconsciousness, transient

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

urea-cycle enzymopathies

uric acid, low

urinalysis, abnormal

urinary incontinence

urine test for metabolic disorders

venous thrombosis, non-cerebral

ventricular enlargement

ventricular tachycardia

very long chain fatty acids

vinblastine

vincristine neurotoxicity

vision, failure of in childhood

visual acuity, decreased

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, progressive

visual loss, slow

visuospatial disturbance

walking, difficulty with

white matter disease, subcortical

whole genome sequencing

wide based gait

Wolff-Parkinson-White syndrome

X-linked lissencephaly

x-linked mental retardation

Showing articles 50 to 100 of 5526 << Previous Next >>

Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014

Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014

Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013

Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013

Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013

Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013

MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012

Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010

Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
Neurosurg Focus 29:E7, Washington,C.W.,et al, 2010

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009

Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009

Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008

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

Tuberous Sclerosis Complex: A Tale of Two Genes
Neurol 70:904-905, Nass,R. &Crino,P.B., 2008

Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007

Clinical Update:Diagnosis and Treatment of Essential Tremor
Lancet 369:1152-1154, Benito-Leon,J&Louis,E.D., 2007

Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007

Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007

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

Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007

Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007

GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005

Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004

Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
Pediatr Neurol 30:236-243, Ceulemans,B.P.G.M.,et al, 2004

Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003

Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003

Familial Temporal Lobe Epilepsy with Febrile Seizures
Neurol 58:1429-1433, Depondt,C.,et al, 2002

Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002

Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002

A Double-blind Placebo-controlled Trial of Topiramate Treatment for Essential Tremor
Neurol 59:132-134, Connor,G.S., 2002

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

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

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