Neudle.com: trinucleotide repeats

Differential
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acoustic neurinoma, bilateral

advances in neurology

adverse drug reaction

airway obstruction

alcohol intolerance

algorithm

alternating rapid movement

alveolar hypoventilation

Alzheimer's disease

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, differential diagnosis

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, misdiagnosis

atrioventricular block

atypical

autoimmune disease

autonomic dysfunction

Babinski sign

baldness

basal ganglia, degeneration

basal ganglia, lesion of

cardiac arrest and resuscitation

cardiomyopathy

cataracts

caudate nucleus, atrophy

central nervous system, infection of

cerebellar ataxia, hereditary

cerebellar ataxia, primary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar lesion

cerebellar vermis

cerebral cortical atrophy

chromosomal abnormality

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

congenital birth defects

congenital heart disease

congestive heart failure

consanguinity

controversies in neurology

corpus callosum

corpus callosum, lesion of

corpus callosum, thinning

counselling

creatine phosphokinase(CPK)elevated

cyst, benign intracranial

deep tendon reflexes

degenerative diseases of CNS

delay in diagnosis

dementia

dentatorubral-pallidoluysian atrophy

depression

developmental retardation

dexterity, impaired

diabetes mellitus

differential diagnosis

diplopia

distal muscle weakness

dropped head syndrome

electrocardiogram, abnormal

electromyogram

electroretinograph

employment

epidemiology of neurology

episodic neurologic deficits

erectile dysfunction

ethics in neurology

exome sequencing

extraocular muscle atrophy

extraocular muscle lesion

eye movement, disorders of

facial appearance, abnormal

facial weakness

facial weakness, bilateral

finger nose finger test

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontal balding

fundus, abnormality of

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

Huntington's chorea, differential diagnosis

Huntington's chorea, genetic counselling

Huntington's chorea, late onset

Huntington's chorea, misdiagnosis of

Huntington's chorea, presymptomatic detection of

Huntington's chorea, sporadic form

Huntington's disease, children

inclusion bodies, intranuclear

incoordination

intellectual deficit

intellectual deterioration

internet

L-dopa

learning disability

learning disability, in children

leg weakness, bilateral

leukoencephalopathy

lid closure, weakness of

liver disease

memory, impairment of

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

mitral valve prolapse

MRI, diffusion weighted

MRI, FLAIR

MRI, spinal cord

MRS

multiple system atrophy

muscle atrophy, progressive

muscle biopsy

muscle cramp

muscle pain

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, cardiovascular changes with

muscular dystrophy, classification

myotonia dystrophica, classification

myotonia dystrophica, type 2

neck weakness

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, primary intracranial

neoplasm, primary of CNS

neurologic disease

neurologic disease, diagnoses of

neurologic evaluation

neurologic history

neurologic signs

neuronal intranuclear inclusion disease

neuronal migration disorder

neuronopathy

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

NOTCH2NLC

nystagmus

ocular motility, disorders of

oculopharyngeal muscular dystrophy

old age, neurology of

ophthalmoplegia

optic atrophy

optical coherence tomography

Parkinson disease

Parkinsonism syndrome

percussion induced muscle contraction

personality change

pes cavus

polymerase chain reaction

polymerase chain reaction, false negative

polymerase chain reaction, false positive

practice guidelines

preclinical

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

prognosis

progressive neurologic disorder

proprioception, abnormal

proximal myotonic myopathy

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychomotor retardation

psychosis

ptosis

ptosis, bilateral

pyramidal tract dysfunction

slit lamp examination

spastic ataxia

spasticity

spinal cord, lesion of

spinal muscular atrophy

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 12

spinocerebellar ataxia type 17

spinocerebellar ataxia type 2

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 6

spinocerebellar ataxia type 7

spinocerebellar ataxia type 8

spinocerebellar degeneration

sudden death

suicide

tandem gait, ataxic

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

term infant

treatment of neurologic disorder

tremor

tremor, intention

trinucleotide repeats

upgaze, paralysis of

vibratory sensation

vibratory sensation, abnormal

viral infection, CNS

visual acuity, decreased

visual loss

visual loss, progressive

visual loss, slow

visuospatial disturbance

walking, difficulty with

weakness

weakness, proximal

weaning from respirator, failure to

X-linked bulbospinal neuronopathy

x-linked mental retardation

Showing articles 50 to 85 of 85 << Previous

Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997

The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
Neurol 49:1009-1013, Lorenzetti,D.,et al, 1997

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

Clinical and Molecular Features of Spinocerebellar Ataxia Type 6
Neurol 49:1243-1246, 11961997., Stevanin,G.,et al, 1997

Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997

Genetic Testing of Children at Risk for Huntington's Disease
Neurol 49:1048-1053, Nance,M.A.,et al, 1997

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

Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
Neurol 47:1578-1580, Nance,M.A.,et al, 1996

Trinucleotide Repeat Length and Clinical Progression in Huntington's Disease
Neurol 46:527-531, Brandt,J.,et al, 1996

Psychiatric Symptoms Do Not Correlate with Cognitive Decline, Motor Sympt or CAG Repeat Length in Huntington's
Arch Neurol 53:493-497, Zappacosta,B.,et al, 1996

Motor Changes in Presymptomatic Huntington Disease Gene Carriers
Arch Neurol 53:487-492, Siemers,E.,et al, 1996

Relationship Between Trinucleotide Repeats and Neuropathological Changes in Huntington's Disease
Ann Neurol 39:132-136, Furtado,S.,et al, 1996

Dopa-Responsive parkinsonism Phenotype of Machado-Jospeh Disease:Confirmation of 14q CAG Expansion
Ann Neurol 48:684-687, Tuite,P.J.,et al, 1995

Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
Neurol 45:443-447, Britton,J.W.,et al, 1995

Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995

Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995

Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,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

Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
JAMA 274:813-819, Tokgozoglu,L.S.,et al, 1995

Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
Muscle & Nerve 18:782-783995., Stoll,G.,et al, 1995

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

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

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

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

Mutation Analysis in Patients with Possible but Apparently Sporadic Huntington's Disease
Lancet 344:714-717, Davis,M.B.,et al, 1994

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993

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

The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993

Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993

Showing articles 50 to 85 of 85 << Previous