Neudle.com: molecular genetics

Differential
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abscess, intracerebral

acetazolamide

aciduria

acoustic nerve, vestibular division of

acoustic neurinoma

acquired immunodeficiency syndrome

acromicria

Adies pupil

adrenal mass

adult polyglucosan body disease

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

agitation

Alexanders disease

algorithm

alternating hemiplegia

alternating hemiplegia of childhood

alveolar hypoventilation

Alzheimer's disease

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, familial, late onset

Alzheimer's disease, pathogenesis

Alzheimer's disease, risk factors in

Alzheimer's disease, treatment of

amyotrophic lateral sclerosis

anaplastic large cell lymphoma

aneurysm, intracranial, screening for

anterior horn cell disease

anterior tibial muscle weakness

antibiotic prophylaxis

antibiotics

antibodies to voltage-gated calcium channels

anticonvulsants

anticonvulsants, selection of

aromatic amino acid decarboxylase deficiency

arrhythmia, cardiac

arteriovenous malformation, cerebral

arthralgia

arthritis

arthrogryposis multiplex

ataxia telangiectasia

ataxic-dystonia syndromes

ATP1A3 gene

atrioventricular block

attention deficit disorder with hyperactivity

autism

autoantibodies

autoimmune basal ganglia encephalitis

autoimmune disease

automatic implantable cardioverter-defibrillator

autonomic dysfunction

azidodeoxythymidine

Babinski sign

bacterial infection

bacterial infection, CNS

baldness

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

biotinidase deficiency

bitemporal visual field defect

brachial plexus neuropathy

brachial plexus neuropathy, familial

bradycardia

brain biopsy

brain biopsy, negative

calcification, intracranial

carcinoma of pancreas

CAT scan, false negative

central nervous system, infection of

cerebellar ataxia, autosomal recessive

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar ataxia, primary

cerebellar atrophy, primary

cerebellar lesion

cerebellum, neoplasms of

cerebral cortex

cerebral cortical atrophy

cerebral edema

cerebral edema, origin and treatment

cerebral edema, vasogenic

cerebral embolism

cerebral palsy

cerebral palsy, etiology

cerebral palsy, work up

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, beta-D-glucan

cerebrospinal fluid, biochemical markers of CNS tumors

cerebrospinal fluid, childhood

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, proteincytologic dissociation

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, multiple

cerebrovascular accident, silent

cerebrovascular accident, young adult

cerebrovascular disease

ceruloplasmin, serum

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

cherry red spot-myoclonus syndrome

chest x-ray, abnormal

chewing, impaired

children

chloride channel dysfunction

cholecystitis

chorea

choreoathetosis

chromosomal abnormality

chronic progressive external ophthalmoplegia

cirrhosis

Clinical Pathologic Conference(C.P.C.)

clinical trials

clonus

clubbing of fingers

cobalamin C deficiency

cognition

collagen vascular disease

coma

complications

compression neuropathy

compression neuropathy, recurrent

conduction block

confidentiality

confusion

congenital malformation

congenital myasthenic syndromes

congenital myopathy

congenital myopathy, inflammatory

congestive heart failure

controversies in neurology

corpus callosum

corpus callosum, lesion of

corpus callosum, thinning

cranial nerve enhancement

cranial nerve tumor

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

cry, abnormal

cry, weak

cultured skin fibroblasts

deafness

deep gray nuclei

deep tendon reflexes

degenerative diseases of CNS

dementia, rapidly progressive

dementia, transmissible

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

developmental abnormality of brain

developmental disability

developmental evaluation

developmental retardation

differential diagnosis

difficulty going down stairs

dilantin

diplopia

distal muscle atrophy

distal muscle weakness

diurnal variation

DNA probes

DNA sequencing

dopa responsive dystonia

dopaminergic dysfunction

double-cortex syndrome

drooling

drug induced neurologic disorders

dystonia musculorum deformens

dystonia, children

dystonia, etiology of

dystonia, painful

dystroglycanopathies

dystrophin

dystrophin associated proteins

eating disorder

edema, pedal

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, classification

ejection fraction

ejection fraction, abnormal

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

electroencephalogram, inflammatory disease

electromyogram

electron microscopy

Emery-Dreifuss muscular dystrophy

emotional lability

encephalitis

encephalitis, autoimmune

encephalitis, diagnosis of

encephalitis, viral

encephalitis, viral-causes of

encephalopathy

encephalopathy, progressive

endolymphatic sac tumors

epidemiology of neurology

eye movement, disorders of

facial appearance, abnormal

facial expression abnormality

facial weakness

facial weakness, bilateral

fatal familial insomnia

fine motor function, impaired

fingerprint bodies

fish

fistula, arterio-venous, pulmonary

fourth ventricle, compression

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

fundus, abnormality of

funduscopic exam

fungal infection

fungal infection, CNS

gastrointestinal bleeding

Gaucher's disease

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

giant axonal neuropathy

glioblastoma multiforme(astrocytoma Gr.III)

glioma

glioma, low-grade

gliomatosis cerebri

globus pallidus, lesion of, bilateral

glucocerebrosidase

GLUT1 deficiency syndrome

glycogen storage disease

gram positive cocci

grimacing

growth hormone deficiency

growth retardation

Guillain Barre syndrome

headache, awakening with

headache, positional

headache, progressive

hearing loss

heart block

heart block, complete

heart murmur

helminthic infection of CNS

hemangioblastoma

hemiparesis, transient

hemoglobin abnormality, neurologic complications of

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

herniation syndromes, intracranial

histochemistry of muscle

Huntington's chorea, genetic counselling

Huntington's chorea, presymptomatic detection of

hydrocephalus

hydrocephalus, non-communicating(obstructive)

hyperactivity

hypercapnia

hyperhomocysteinemia

hyperkalemic periodic paralysis

hypogonadism, hypogonadotropic

hypokalemic periodic paralysis

hypopigmentation of skin

immunosuppressive agents

in situ hybridization

inborn errors of metabolism

inclusion bodies

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

inclusion body myositis

intellectual deterioration

intestinal biopsy

intestinal pseudoobstruction

intracerebral hemorrhage

intracranial pressure, increased

intranasal medication

intrauterine infection

intrauterine infection, viral

intravenous drug abuse

intrinsic hand muscles, wasting of

Jakob-Creutzfeldt disease

Jewish

joint hypermobility

karyotyping

Kayser-Fleischer ring

Kearns-Sayre syndrome

learning disability, in children

Leber's hereditary optic neuropathy

leg spasms

leg spasms, painful

leg weakness, bilateral

level of consciousness, decreased

liver function enzymes

lymphoma involving CNS

lymphoma, primary of CNS

lysosomal storage disease

macrocephaly

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malformation, vascular, screening for

malignant hyperpyrexia

memory, impairment of

meningeal enhancement

meningeal sarcomatosis

meningitis, leptospira

meningitis, neutrophilic

meningoencephalitis

mental retardation

mental status, abnormal

metabolic disorder, primary

metabolic disorder, primary-screening tests

methylmalonic acidemia

mexiletine

microcephaly

micrognathia

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

migraine

Miller-Dieker syndrome

mimics

mineralization

Mini Mental Status Examination

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

molecular genetics

molecular markers

mononeuropathy

mononeuropathy, recurrent

MRI, contrast enhanced

MRI, diffusion weighted

MRI, nodular enhancement

muscle atrophy, progressive

muscle biopsy

muscle cramp

muscle diseases, characteristics of

muscle hypertrophy

muscle pain

muscle phosphorylase deficiency

muscle stiffness

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, distal, Miyoshi

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, dystrophin normal

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

muscular dystrophy, neurogenic hypothesis of

mutism

myasthenia gravis, differential diagnosis

myasthenia gravis, misdiagnosis of

myelin protein zero gene

myelitis, longitudinal

myopathy, centronuclear

myopathy, distal

myopathy, distal Laing

myopathy, distal, vacuolar

myopathy, drug-induced

myopathy, mitochondrial

myotonia dystrophica, classification

myotonia dystrophica, type 2

nemaline rod myopathy

neonatal intensive care unit

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, peripheral nerve

neoplasm, primary intracerebral

neoplasm, primary intracranial

neoplasm, primary of CNS

neoplasm, primary of CNS-classification

neoplasm, primary of CNS-surgical treatment of

neoplasm, primary of CNS-survival

neoplasm, primary of CNS-treatment of

nephritis

nerve biopsy

nerve biopsy, indication

nerve conduction studies

nerve hypertrophy

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurofibroma

neurofibromatosis 1

neurofibromatosis 2

neurofibromatosis 2, presymptomatic

neurofibromin

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination, focal

neurologic practice

neurologic signs

neurologic testing

neuronal ceroid-lipofuscinosis

neuronal degeneration

neuronal intranuclear inclusion disease

neuronal migration disorder

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, amyloid

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, peripheral

neuropathy, recurrent

neuropathy, work up for

neurotomy

newborn, evaluation of

next-generation sequencing

obsessive-compulsive disorder

ocular motility, disorders of

oculogyric crisis

oculopharyngeal muscular dystrophy

ophthalmoplegia, progressive external

optic atrophy

optic atrophy, hereditary

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

orthostatic hypotension

ovarian dysgenesis

overlap syndrome

owl's eye sign of spinal cord

pacemaker, cardiac-transvenous

paraparesis, familial spastic

paraparesis, spastic

paraplegin

parasitic infection, CNS

paresthesias

Parkinson disease

Parkinson disease, etiology of

Parkinson disease, familial

Parkinson disease, pathogenesis of

Parkinson disease, treatment of

Parkinsonism syndrome

paroxysmal neurologic deficits

PAS positive

patient information and support

penicillamine

percussion induced muscle contraction

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pleocytosis of cerebrospinal fluid, neutrophilic

pleural effusion

POLG1 gene

polyglucosan body disease

polymerase chain reaction

polymicrogyria

polyneuropathy, familial

pons, lesion of

positive sharp waves

posterior fossa, lesion of

postural abnormality

potassium channel dysfunction

practice guidelines

Prader-Labhart-Willi syndrome

precipitating factors

preclinical

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

presenilin-1 gene

presenilin-2 gene

prevention of neurologic disorders

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

proximal muscle atrophy

proximal myotonic myopathy

psychiatric disorder

psychiatric problems in neurologic disorders

pupil, dilated and fixed, bilateral

putamen, lesion of

putamen, lesion of, bilateral

pyramidal tract

pyramidal tract dysfunction

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriplegia

quality of life

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

ragged-red fibers

rapidly fatal neurologic illness

respiratory tract infection

reversible neurologic disorder

rhabdomyosarcoma of heart

saccadic eye movements, abnormal

salivation, excessive

seizure, treatment of

senile plaques

sensorineural hearing loss

sensory loss

serologic testing

serologic testing of cerebrospinal fluid

shagreen patch

short stature

shunt procedure, ventricular

shunt procedure, ventricular-complications of

skin, hyperextensible

skin, lesions in neurologic disorders

skin, thin

skin, translucent

slit lamp examination

SMN1 gene

sodium channel dysfunction

South America

spartin

spastic ataxia

spastic paraplegia, type 7

spinal cord degeneration

spinal cord, lesion of

spinal cord, neoplasm

spinal cord, neoplasm, intramedullary

spinal cord, vascular malformation of

spinal muscular atrophy

spinal muscular atrophy, adult onset

spinal muscular atrophy, classification

spinal muscular atrophy, intermediate form

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 28

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 6

spinocerebellar degeneration

spirochete infection

splenomegaly

spongy degeneration of brain

striatal encephalitis

strokelike episodes

subarachnoid hemorrhage

survival motor neuron gene

symmetric brain lesions

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

thalamus, lesion of

thalamus, lesion of-bilateral

thalassemia

thalassemia/mental retardation syndrome

tomaculous neuropathy

tongue, protrusion of

trauma

travel, foreign

treatment of neurologic disorder

trientine dihydrochloride

trinucleotide repeats

tuberous sclerosis, screening for

twins

ultrasonography, head

ultrasonography, head, fetus-neonate

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

urinary catecholamines

urinary urgency

urine test for metabolic disorders

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity, decreased

visual evoked response

visual field defect

visual impairment

visual loss

visual loss, progressive

visual loss, slow

visual loss, transient

visual obscurations, transient

vitamin E deficiency

Von Hippel Lindau

Von Hippel Lindau, carrier

Von Hippel Lindau, screening protocol for

walking, delayed

walking, difficulty with

weakness

weakness, fatiguable

weakness, generalized

weakness, progressive

Western immunoblot test

X-linked bulbospinal neuronopathy

x-linked intellectual deficit

x-linked mental retardation

Zika virus infection

zinc

Showing articles 100 to 150 of 1733 << Previous Next >>

Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997

von Hippel-Lindau Disease
Medicine 76:381-391, Maher,E.R.&Kaelin,W.G., 1997

Chromosome 19 Single-Locus & Multilocus Haplotype Assoc with MS, Evid of New Suscept Locus in Caucasian & Chinese Pts
JAMA 278:1256-1262, 12821997., Barcellos,L.F.,et al, 1997

Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997

Exploring the Etiology of Alzheimer Disease Using Molecular Genetics
JAMA 277:825-831, Lendon,C.L.,et al, 1997

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

Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996

The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996

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

Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
Neurol 46:1133-1137, Pareyson,D.,et al, 1996

From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996

Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
Neurol 46:1485-1486, Vidaud,D.,et al, 1996

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996

Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996

Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996

Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995

Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
Neurol 45:2018-2023, Gouider,R.,et al, 1995

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995

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

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
Arch Neurol 113:749-753, Claes,S.,et al, 1995

Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995

Brief Report:Diagnosis of Whipple's Disease by Molecular Analysis of Peripheral Blood
NEJM 331:1343-1346, Lowsky,R.,et al, 1994

Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
Ann Neurol 36:630-635, Illarioshkin,S.N.,et al, 1994

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,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

Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
Neurol 44:2250-2252, Gouider,R.,et al, 1994

Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
Neurol 44:2253-2257, Chance,P.F.,et al, 1994

Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994

Human Prion Diseases
Ann Neurol 35:385-395, Prusiner,S.B.&Hsiao,K.K., 1994

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

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

Myotonic Dystrophy with No Trinucleotide Repeat Expansion
Neurol 35:269-272, 2551994., Thornton,C.A.,et al, 1994

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994

CAG Repeat Size and Clinical Presentation in Huntington's Disease
Neurol 44:1137-1143, Ashizawa,T.,et al, 1994

A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994

The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994

Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993

The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993

Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993

Gene Therapy for Neurologic Disease
Arch Neurol 50:1252-1268, Suhr,S.T.&Gage,F.H., 1993

DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993

Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993

Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993

Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993

Showing articles 100 to 150 of 1733 << Previous Next >>