Neudle.com: "exome sequencing"

Differential
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aciduria

acute disseminated encephalomyelitis

adult-onset leukodystrophy, with neuroaxonal spheroids

adverse drug reaction

akathisia

algorithm

alternating hemiplegia

alternating hemiplegia of childhood

amimia

aneurysm

anterior tibial muscle weakness

antiviral agents

areflexia

arthrogryposis multiplex

attention deficit disorder with hyperactivity

autoantibodies

autoimmune basal ganglia encephalitis

autoimmune disease

autoimmune meningitis

autonomic dysfunction

brain biopsy, false negative

brain biopsy, indication

bruising

bulbar palsy

calcification, intracranial

candida albicans

cane

CAT scan, abnormal

CAT scan, disappearing lesion on

central nervous system, infection of

cerebellar ataxia, children

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral infarction, subcortical

cerebral palsy

cerebral palsy, etiology

cerebral palsy, work up

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, beta-D-glucan

cerebrovascular accident

cerebrovascular accident, mimics

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

cobalamin C deficiency

cognition

coinfection

cold intolerance

collagen vascular disease

complications

confabulation

congenital myasthenic syndromes

consanguinity

corpus callosum

corpus callosum, lesion of

corpus callosum, thinning

cranial nerve enhancement

cranial neuropathy

creatine phosphokinase(CPK)elevated

cryptococcal meningitis

deafness

degenerative diseases of CNS

delay in diagnosis

delayed muscle relaxation

dementia

dementia, presenile

dementia, rapidly progressive

developmental disability

developmental retardation

diagnostic criteria

diet

differential diagnosis

difficulty going down stairs

diplopia

distal muscle weakness

dopa responsive dystonia

double-cortex syndrome

drug induced neurologic disorders

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, classification

electromyogram

encephalitis

encephalitis, acute

encephalitis, autoimmune

encephalitis, diagnosis of

encephalitis, etiology

encephalitis, Japanese

encephalitis, viral-causes of

fatal familial insomnia

fatigue

fever

fibrillations

fine motor function, impaired

floppy infant

fourth ventricle, compression

fungal infection

fungal infection, CNS

genetic neurologic disorders

genetic screening

genetic testing

geographic location

GLUT1 deficiency syndrome

gram positive cocci

hammertoes

headache

headache, awakening with

headache, positional

headache, progressive

hearing loss

hemianopia, homonymous

hemiparesis, transient

herpes simplex encephalitis

hydrocephalus, non-communicating(obstructive)

immunosuppressive agents

inattention

inborn errors of metabolism

inclusion bodies, intranuclear

intracerebral hemorrhage

intravenous drug abuse

Leber's hereditary optic neuropathy

leukodystrophy

leukoencephalopathy

level of consciousness, decreased

lysosomal storage disease

malformation, CNS, congenital

malignancy screen

megalencephaly

MELAS syndrome

memory, defect of recent

memory, impairment of

meningeal enhancement

meningitis

meningitis, aseptic

meningitis, bacterial

meningitis, basilar

meningitis, candida

meningitis, carcinomatous

meningitis, chronic

meningitis, diagnosis

meningitis, fungal

meningitis, helminthic

meningitis, neutrophilic

meningitis, noninfectious

meningitis, parameningeal

meningitis, parasitic

meningitis, TB

meningitis, treatment of

meningitis, treatment of, empirical

meningitis, viral

meningitis, viral etiology in

meningitis-encephalitis PCR panel

mental retardation

mental status, abnormal

mestinon

methylmalonic acidemia

microhemorrhage, intracerebral

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

migraine

mimics

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

MRI, contrast enhanced

MRI, diffusion weighted

MRI, mass effect on

MRI, nodular enhancement

MRI, spinal cord

muscle atrophy, progressive

muscle biopsy

muscle stiffness

muscle twitching

muscle wasting, diffuse

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, limb-girdle

mutism

myasthenia gravis

myasthenia gravis, congenital

myasthenia gravis, misdiagnosis of

myasthenia gravis, seronegative

myasthenia gravis, treatment of

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neuromyotonia

neuromyotonia and axonal neuropathy

neuronal intranuclear inclusion disease

neuronopathy, sensory

neuropathy

neuropathy, demyelinating

neurotomy

next-generation sequencing

normal

NOTCH2NLC

nystagmus

nystagmus, gaze-evoked

opened mouth

ophthalmoplegia

opportunistic infection

opportunistic infection, CNS

pachygyria

papilledema

paraparesis, familial spastic

paraparesis, familial spastic, classification

paraparesis, spastic

Parkinsonism syndrome

paroxysmal neurologic deficits

pes cavus

phonophobia

photophobia

pleocytosis of cerebrospinal fluid

pleocytosis of cerebrospinal fluid, neutrophilic

POLG1 gene

polymerase chain reaction

polymicrogyria

precipitating factors

prion disease

prognosis

progressive neurologic disorder

proximal muscle atrophy

pseudobulbar palsy

pseudoxanthoma elasticum

psychiatric problems in neurologic disorders

pyramidal tract dysfunction

quadriplegia

review article

risk factors

salivation, excessive

sensorineural hearing loss

seronegative

shunt procedure, ventricular

shunt procedure, ventricular-complications of

skin, biopsy

skin, hyperextensible

skin, lesions in neurologic disorders

skin, thin

skin, translucent

sleep pathology and physiology

small vessel disease

spastic ataxia

spastic paraplegia, type 7

spasticity

spinal cord, lesion of

standing difficulty

status epilepticus

striatal encephalitis

strokelike episodes

subarachnoid hemorrhage

systemic illness

tandem gait, ataxic

thalamus, lesion of

thalamus, lesion of-bilateral

tinnitus

toe walking

tone, muscle, increased

treatment of neurologic disorder

treatment, empirical

tremor

tremor, intention

trinucleotide repeats

vision loss, sequential

vision, blurred

visual field defect

visual loss

visual loss, progressive

visual loss, transient

visual obscurations, transient

walking, delayed

walking, difficulty with

weakness

weakness, fatiguable

weakness, generalized

weakness, progressive

white matter disease, subcortical

x-linked intellectual deficit

x-linked mental retardation

Showing articles 0 to 30 of 30

A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023

A 31-Year-Old Man with Sequential Vision Loss
Neurol 98:163-169, Fortes, B.,et al, 2022

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022

Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022

A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

A 13-Year-Old Boy with Subacute-Onset Spastic Gait
JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021

Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021

A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020

A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020

Acute Encephalitis in Immunocompetent Adults
Lancet 393:702-716, Venkatesan, A.,et al, 2019

Clinical Metagenomic Sequencing for Diagnosis of Meningitis and Encephalitis
NEJM 380:2327-2340, Wilson, M.R.,et al, 2019

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

Chronic Meningitis Investigated via Metagenomic Next-Generation Sequencing
JAMA Neurol 75:947-955,915, Wilson,M.R.,et al, 2018

A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018

Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018

A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016

A 30-year-old Man with Progressive Weakness and Atrophy
Neurol 87:e227-e230, Quinn, C.,et al, 2016

SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014

Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012

Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Showing articles 0 to 30 of 30