Neudle.com: DNA sequencing

Differential
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abortion, spontaneous

acoustic neurinoma

acoustic neurinoma, bilateral

acquired immunodeficiency syndrome

acute necrotizing encephalitis

acyclovir

adenine arabinoside

adrenoleukodystrophy

adrenomyeloneuropathy

adult polyglucosan body disease

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

Alzheimer's disease

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

amimia

amniocentesis

amyloid angiopathy, cerebral

amyloid angiopathy, hereditary cystatin C

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, familial

angiitis, isolated of CNS

anisocoria

anosmia

anterior tibial muscle weakness

anti DNA agent

anti DNA test

anti double-stranded DNA

anticardiolipin antibodies

anticoagulant, treatment in CVD

antiphospholipid antibodies

antiviral agents

apolipoprotein E

APP gene

apraxia of eye movements

arthrogryposis multiplex

ataxia

ataxia telangiectasia

ataxic-dystonia syndromes

ATP1A3 gene

attention deficit disorder with hyperactivity

audiogram

auditory evoked brainstem potentials

autoimmune disease

autonomic dysfunction

Babinski sign

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

behavioral disorder

benign familial neonatal convulsions

brachial plexus neuropathy

brachial plexus neuropathy, familial

brain biopsy

brain biopsy, indication

brainstem, neoplasms of

bronchoscopy

bulbar palsy

bulbar palsy, progressive

cafe au lait spots

calcification, intracranial

candida albicans

carcinoembryonic antigen

carcinoma

carcinoma of lung

carcinoma of pancreas

CAT scan

CAT scan, abnormal

CAT scan, emission

CAT scan, emission, abnormal

cataracts

cataracts, congenital

cavernous hemangioma

CD4 counts

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar atrophy, primary

cerebellar degeneration

cerebellar lesion

cerebellum, neoplasms of

cerebral atherosclerosis

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral embolism

cerebral infarction

cerebral infarction, subcortical

cerebral ischemia

cerebral palsy

cerebral palsy, etiology

cerebral palsy, work up

cerebro hepato renal syndrome

cerebrospinal fluid, abnormal

cerebrospinal fluid, anti DNA

cerebrospinal fluid, beta-D-glucan

cerebrospinal fluid, complement of

cerebrospinal fluid, cytology

cerebrospinal fluid, DNA in

cerebrospinal fluid, gammaglobulin of

cerebrospinal fluid, proteincytologic dissociation

cerebrospinal fluid, xanthochromia of

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, multiple

cerebrovascular accident, young adult

ceruloplasmin, serum

Charcot-Marie-Tooth

chelation therapy

chemotherapy, CNS treatment and complications with

chest x-ray, abnormal

children

chorea

choreoathetosis

choreoathetosis, paroxysmal

chorioretinitis

chromosomal abnormality

Clinical Pathologic Conference(C.P.C.)

clonazepam

clonus

clubfoot as related to neurologic disease

cobalamin C deficiency

compression neuropathy

compression neuropathy, recurrent

confusion

congenital myasthenic syndromes

consanguinity

corpus callosum

corpus callosum, lesion of

corpus callosum, thinning

cost effectiveness

cranial nerve enhancement

creatine phosphokinase(CPK)elevated

creatinine, elevated

Creutzfeldt-Jakob disease, genetic

cryptococcal meningitis

cyst, neoplastic cerebellum

cyst, porencephalic

cytomegalic inclusion disease

cytomegalovirus infection

cytosine arabinoside

degenerative diseases of CNS

dementia

dementia, familial

dementia, presenile

dementia, rapidly progressive

dementia, transmissible

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

depression

depression, psychotic

developmental disability

developmental retardation

diabetes mellitus

diagnostic criteria

diet

difficulty going down stairs

distal muscle atrophy

distal muscle weakness

DNA probes

DNA sequencing

double-cortex syndrome

drooling

drug induced neurologic disorders

dystonia musculorum deformens

electroencephalogram, abnormalities of

electromyogram

electron microscopy

electronystagmography

electroretinograph

encephalitis

encephalitis, brainstem

encephalitis, focal

encephalitis, Rasmussen's

encephalitis, viral

encephalomyelitis, postinfectious

encephalopathy

enzyme, muscle disease

eosinophilia

ependymoma

epidemiology of neurology

Epstein-Barr virus

ethics in neurology

exome sequencing

eye movement, disorders of

face, elongated

facial appearance, abnormal

fatal familial insomnia

fourth ventricle, compression

fragile-X syndrome

Friedreich's ataxia

fundus, abnormality of

fungal infection

fungal infection, CNS

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

GFAP gene

glioblastoma multiforme(astrocytoma Gr.III)

globus pallidus, lesion of, bilateral

gonadotropin-releasing hormone

gram positive cocci

growth retardation

Guillain Barre syndrome

gynecomastia

Hallervorden Spatz disease

hallucination

hallucination, auditory

hallucination, olfactory

hallucination, visual

hamartoma

hammertoes

headache

headache, awakening with

headache, positional

headache, progressive

hearing loss

helminthic infection of CNS

hemangioblastoma

hemiparesis

hemiparesis, transient

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatosplenomegaly

herpes labialis

herpes simplex encephalitis

herpes simplex encephalitis, diagnosis of

herpes simplex encephalitis, differential diagnosis of

herpes simplex encephalitis, infancy and childhood

herpes simplex encephalitis, prognosis of

herpes simplex encephalitis, recurrent

herpes simplex encephalitis, treatment of

herpes simplex myelitis

herpes simplex virus

herpes simplex virus infection, immunosuppressed patient

herpes simplex virus infection, newborn

herpes simplex virus, human nervous system and

herpes simplex virus, localization of

herpes simplex virus, malignancy with

herpes simplex virus, pathogenesis of

herpes simplex virus, pathology of

herpes simplex, neurocutaneous lesions in

herpes virus

herpes virus infection

herpes zoster

herpes zoster, myelitis

human immunodeficiency virus type 1

Hunter's syndrome

huntingtin

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, late onset

Huntington's chorea, presymptomatic detection of

Huntington's disease, children

hydrocephalus

hydrocephalus, non-communicating(obstructive)

hyperkalemic periodic paralysis

hypogonadism, hypogonadotropic

iatrogenic neurologic disorders

imbalance

immunodeficiency

immunofluorescence

immunofluorescent exam of CSF cells

immunohistochemistry

immunoperoxidase staining

immunosuppression

in situ hybridization

inborn errors of metabolism

inclusion bodies

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

incoordination

India

infectious mononucleosis

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracerebral hemorrhage, young adult

intracranial pressure, increased

intrathecal chemotherapy

intrauterine infection, viral

intrauterine infection, viral of CNS

intravenous drug abuse

intraventricular chemotherapy

intrinsic hand muscles, wasting of

iododeoxyuridine

Jakob-Creutzfeldt disease

Jewish

joint hypermobility

Kallmann's syndrome

Kearns-Sayre syndrome

keratitis

Krabbe's disease

KRIT1 gene

Kugelberg-Welander syndrome

lactic acidemia

Laurence-Moon-Bardet-Biedl syndrome

Leber's hereditary optic neuropathy

leg weakness, bilateral

lethargy

leukemia

leukemia, neurologic findings assoc.with

leukocytes

leukodystrophy

leukoencephalopathy

level of consciousness, decreased

liver function enzymes

lung nodule

lung-brain syndromes

lupus anticoagulant

lupus erythematosis, discoid

lymphoma

lymphoma involving CNS

lymphoma, primary of CNS

lymphopenia

lysosomal storage disease

macrocephaly

macular degeneration

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malformation, vascular, familial

malignant hyperpyrexia

medulla oblongata, atrophy

medulla oblongata, lesion of

megalencephaly

memory, impairment of

meningeal enhancement

meningeal sarcomatosis

meningitis, carcinomatous

meningitis, chronic

meningitis, fungal

meningitis, leukemic

meningitis, neutrophilic

meningitis, recurrent

meningitis, relapse

mental retardation

mental retardation, familial

mental status, abnormal

mestinon

metabolic acidosis

methotrexate

methylmalonic acidemia

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

mineralization

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

mononeuropathy, recurrent

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, blooming effect

MRI, contrast enhanced

MRI, diffusion weighted

MRI, mass effect on

MRI, nodular enhancement

MRI, spinal cord

MRI, spinal cord, increased intramedullary cord signal

mucopolysaccharidoses

mucopolysacchariduria

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, familial

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle biopsy

muscle phosphorylase deficiency

muscle spasm

muscle stiffness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, Becker, carrier

muscular dystrophy, differential diagnosis of

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, Duchenne, presymptomatic detection

muscular dystrophy, female occurrence of

muscular dystrophy, limb-girdle

mutism

myelin basic protein gene

myopathy, mitochondrial

neonatal intensive care unit

neonatal screening, genetic neurologic disorders

neoplasm, intracranial

neoplasm, intracranial, multiple

neoplasm, metastatic to CNS

neoplasm, posterior fossa

neoplasm, primary intracerebral

neoplasm, primary intracranial

neoplasm, primary of CNS

neoplasm, primary of CNS-multiple

nerve growth factor

neurocutaneous disease

neurofibromatosis 2, presymptomatic

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic symptoms

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronal migration disorder

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, amyloid

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, peripheral

newborn, evaluation of

next-generation sequencing

ocular motility, disorders of

oculopharyngeal muscular dystrophy

optic atrophy, hereditary

optic glioma

optic nerve

optic neuropathy

optic neuropathy, hereditary

paraparesis, familial spastic

paraparesis, spastic

paraplegia

parasitic infection, CNS

Parkinsonism syndrome

paroxysmal dystonic choreoathetosis

paroxysmal neurologic deficits

pathology

patient information and support

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pleocytosis of cerebrospinal fluid, neutrophilic

polycystic kidneys

polyglucosan body disease

polyinosinic cytidic acid(poly IC)

polymerase chain reaction

polymicrogyria

polyneuropathy, familial

pons, lesion of

posterior fossa, lesion of

practice guidelines

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

prion disease

progeria

prognosis

progressive multifocal leucoencephalopathy

progressive neurologic disorder

progressive spinal muscular atrophy

proximal myotonic myopathy

psychiatric problems in neurologic disorders

psychological testing

psychological testing, neurologic problems

psychomotor retardation

pyramidal tract dysfunction

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriplegia

quality of life

radiation hypersensitivity

radiation therapy, CNS treatment and complications with

remote effect of cancer on the nervous system

renal cell carcinoma

renal cyst

renal failure

respiratory tract infection

retinal artery occlusion

salivation, excessive

seizure, intractable, treatment of

seizure, neonatal

seizure, psychomotor-temporal lobe

sensorineural hearing loss

shunt procedure, ventricular

shunt procedure, ventricular-complications of

simian crease

skin, lesions in neurologic disorders

skull x-ray, abnormal

sleep pathology and physiology

slow virus infection of CNS

small vessel disease

somatostatin

Southern immunoblot test

spastic ataxia

spastic paraplegia, type 7

spasticity

spinal cord

spinal cord, infarction of

spinal cord, lesion of

spinal cord, neoplasm

spinal muscular atrophy

spine, metastasis to

spinocerebellar ataxia

spinocerebellar ataxia type 28

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar degeneration

spondylosis

spongy degeneration of brain

startle reaction

steroid therapy, CNS treatment and complications with

stuporous

subacute myelo-opticoneuropathy(S.M.O.N.)complex

subarachnoid hemorrhage

subtemporal decompression

symmetric brain lesions

synkinesis

systemic lupus erythematosus

systemic lupus erythematosus, neurologic complications with

talk

tandem gait, ataxic

tapetoretinal degeneration

telangiectases

testicular enlargement

tomaculous neuropathy

transient ischemic attack

transplacental virus infections

trauma

treatment of neurologic disorder

tremor

tremor, intention

trigeminal neuralgia

trinucleotide repeats

varicella zoster virus

vibratory sensation, abnormal

vincristine neurotoxicity

viral infection

viral infection, CNS

viral infection, CNS, treatment of

vision loss, sequential

vision, blurred

visual acuity, decreased

visual field defect

visual loss

visual loss, transient

visual obscurations, transient

visuospatial disturbance

Von Hippel Lindau

Von Hippel Lindau, carrier

Von Hippel Lindau, screening protocol for

walking, delayed

walking, difficulty with

weakness

weakness, fatiguable

weakness, progressive

weakness, proximal

weight loss

Werdnig-Hoffman disease

Western immunoblot test

X-linked bulbospinal neuronopathy

x-linked intellectual deficit

x-linked mental retardation

X-linked neuropathy

Showing articles 50 to 100 of 175 << Previous Next >>

Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994

DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994

Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
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Persistence of Initial Infection in Recurrent Cryptococcus Neuformans Meningitis
Lancet 341:595-596, Spitzer,E.D.,et al, 1993

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993

Treatment of Leptomeningeal Metastasis with Intravent Admin of Depot Cytarabine (DTC 101)
Arch Neurol 50:261-264, Chamberlain,M.C.,et al, 1993

Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993

Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993

The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993

Successful Outcome of Progressive Multifocal Leukoencephalopathy with Cytarabine and Interferon
Ann Neurol 33:407-411, Steiger,M.J.,et al, 1993

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

Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
Neurol 43:668-673, Feero,W.G.,et al, 1993

Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
Ann Neurol 31:555-561, Gutmann,D.H.&Collins,F.S., 1992

Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992

Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992

Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992

The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
Ann Neurol 32:207-214, Rowland,L.P., 1992

Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992

De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992

Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,et al, 1992

Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992

Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992

Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992

Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992

Efficacy of Cytarabine in Progressive Multifocal Leucoencephalopathy in AIDS
Lancet 339:306, Nicoli,F.,et al, 1992

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991

Acute Cerebrovascular Episodes in Systemic Lupus Erythematosus
Quart J Med 293:739-750, Eustace,S.,et al, 1991

A Controlled Trial Comparing Vidarabine with Acyclovir in Neonatal Herpes Simples Infection
NEJM 324:444-449, Whitley,R.,et al, 1991

Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
Ann Neurol 29:469-473, Ryan,S.G.,et al, 1991

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Cytomegalovirus and Rasmussen's Encephalitis
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Dystrophin Analysis in Duchenne & Becker Muscular Dystrophy Carriers:Correl with Intracellular Calcium & Albumin
Ann Neurol 28:674-679, Morandi,L.,et al, 1990

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
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Progressive Multifocal Leukoencephalopathy-Remission with Cytarabine
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990

The Triumph of Linkage Analysis, Editorial
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Linkage of DNA Markers at Xq28 to Adrenoleukodystrophy & Adrenomyeloneuropathy Present in the Same Family
Arch Neurol 47:665-669, Willems,P.J.,et al, 1990

Genetic Testing for Huntington's Disease
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Prion Dementia Without Characteristic Pathology
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AIDS-Assoc Progressive Multifocal Leukoencephalopathy (PML) :Comparison to Non-AIDS PML
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990

Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990

Showing articles 50 to 100 of 175 << Previous Next >>