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

clubfoot as related to neurologic disease

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 150 to 200 of 1733 << Previous Next >>

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

Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993

Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993

Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,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

Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 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

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

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

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

The Molecular Pathogenesis of Alzheimer's Disease:Clinical Prospects
Lancet 340:1512-1515, Murphy,M., 1992

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

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

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

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992

Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 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

GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992

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

Clinical Genetics and Genetic Counseling in Alzheimer Disease
Ann Int Med 115:601-606, Breitner,J.C.S., 1991

More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991

Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991

Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991

Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991

Genetice of Cerebrovascular Disease
Stroke 22:276-280, Alberts,M.J., 1991

Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
Lancet 337:508-510, Arnaudo,E.,et al, 1991

Inherited Human Prion Diseases
Neurol 40:1820-1827, Hsiao,K.&Prusiner,S.B., 1990

Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990

Prion Dementia Without Characteristic Pathology
Lancet 336:7-9, 21-221990., Collinge,J.,et al, 1990

Relative Increase of T Cells Expressing Gamma/Delta Rather than Alpha/Beta Receptor in Ataxia-Telangietasia
NEJM 322:73-76, 1241990., Carbonari,M.,et al, 1990

Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990

Homing in on Wilson's Disease
Editorial, Lancet 1:822-8231989., , 1989

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 1989

Criteria for Establishing the Validity of Genetic Recombination in Myotonic Dystrophy
Neurol 39:420-421, Griggs,R.C.,et al, 1989

The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988

McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988

Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025

A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025

Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025

A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025

Severe Myotonic Crisis Resembling Malignant Hyperthermia
Neurol 104:e213497, Wadhwani,A.R.,et al, 2025

Showing articles 150 to 200 of 1733 << Previous Next >>