Neudle.com: molecular genetics

Differential
(Click to cross reference)

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 50 to 100 of 1733 << Previous Next >>

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

Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006

Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 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

Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005

Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004

Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 2004

Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004

Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003

Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003

Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003

Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003

von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003

The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003

Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003

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

Alzheimer Disease
JAMA 287:2335-2338, Cummings,J.L. &Cole,G., 2002

Sickle Cell Disease: The Neurological Complications
Ann Neurol 51:543-552, Prengler,M.,et al, 2002

Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002

Gliomatosis Cerebri: Molecular Pathology and Clinical Course
Ann Neurol 52:390-399,389, Herrlinger,U.,et al, 2002

CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
Neurol 58:390-396,339, Gleissner,B.,et al, 2002

Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001

Impact of the Human Genome Projects and Identification of a Stroke Gene
Stroke 32:1239-1241, Alberts,M.J., 2001

Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000

The Brain Code in Health and Disease
Arch Neurol 57:50-51, Rosenberg,R.N., 2000

Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
Neurol 54:546-551, Stogbauer,F.,et al, 2000

New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000

Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999

Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999

Indications and Value of Nerve Biopsy
Muscle & Nerve 22:1617-1619, Said,G., 1999

Linkage of Proximal Myotonic Myopathy to Chromosome 3q
Neurol 52:170-171,12, Ricker,K.,et al, 1999

What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999

The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
Arch Neurol 55:1287-1290, Evans,G.A., 1998

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998

The Genetics of Alzheimer Disease, Current Status and Future Prospects
Arch Neurol 55:294-296, Blacker,D.&Tanzi,R.E., 1998

PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
Neurol 50:760-763, Young,P.,et al, 1998

Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
JAMA 278:1237-1241, 12821997., Pericak-Vance,M.A.,et al, 1997

Friedreich's Ataxia GAA Repeat Expansion in Pts with Recessive or sporadic Ataxia
Neurol 49:1004-1009, Geschwind,D.H.,et al, 1997

The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
JAMA 278:51-57, Gutmann,D.H.,et al, 1997

Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997

The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997

Showing articles 50 to 100 of 1733 << Previous Next >>