Neudle.com: "mitochondrial disease"

Differential
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abdominal distention

acanthocytosis

acquired immunodeficiency syndrome

acute disseminated encephalomyelitis

adrenoleukodystrophy

advances in neurology

adverse drug reaction

alternating hemiplegia

Alzheimer's disease

Alzheimer's disease, pathogenesis

amyloid angiopathy, cerebral

amyloid beta protein

anatomy of

aneurysm, intracranial, familial

angiitis, granulomatous of CNS

angiitis, isolated of CNS

anorexia

anterior tibial muscle weakness

anticonvulsants

anticonvulsants, selection of

Arnold Chiari malformation

ataxia telangiectasia

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, infarction

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basilar artery occlusion

Bassen-Kornzweig syndrome

bitemporal visual field defect

blindness

blindness, sudden

blood dyscrasias, neurologic findings with

calcification, intracranial

Canavan's disease

carbon monoxide poisoning

CAT scan, contrast enhanced

CAT scan, dense artery sign

CAT scan, disappearing lesion on

CAT scan, emission

CAT scan, emission, abnormal

CAT scan, false negative

CAT scan, muscle

CAT scan, xenon-enhanced

cataracts

cataracts, congenital

caudate nucleus

caudate nucleus, lesion of

caudate nucleus, lesion of, bilateral

cause of death

central core disease

central nervous system, infection of

central pontine myelinolysis

cerebellar ataxia, children

cerebellar ataxia, children, differential diagnosis of

cerebellar ataxia, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar lesion

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral blood flow

cerebral cortex

cerebral cortical atrophy

cerebral edema, cytotoxic

cerebral embolism

cerebral embolism, cardiac origin

cerebral glucose metabolism

cerebral infarction

cerebral infarction, small, deep

cerebral palsy

cerebral venous infarction

cerebral venous thrombosis

cerebral venous thrombosis, deep

cerebro hepato renal syndrome

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, oligoclonal IgG in

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, location of

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, nonvascular territory

cerebrovascular accident, prevention of

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

chemotherapy, CNS treatment and complications with

cherry red spot-myoclonus syndrome

children

chorea

chromosomal abnormality

chronic progressive external ophthalmoplegia

Chvostek sign

Clinical Pathologic Conference(C.P.C.)

Cockayne's syndrome

coenzyme Q10

coenzyme Q10 deficiency

cognition

color vision

color vision, impaired

coma

congenital birth defects

congenital myopathy

congestive heart failure

consanguinity

cornea, abnormal

corpus callosum, lesion of

cortical blindness

cortical blindness, transient

cortical infarction

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

cricopharyngeal bar

crying

cultured skin fibroblasts

cyanide poison

cyst, parenchymal

cytochrome c oxidase

cytochrome c oxidase, deficiency

cytomegalovirus infection

degenerative diseases of CNS

dementia

dementia, rapidly progressive

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

developmental milestones

developmental milestones, loss of

developmental retardation

diabetes mellitus

diarrhea

differential diagnosis

diplegia, brachial

diplopia

distal muscle weakness

dizziness

DNA probes

drug induced neurologic disorders

drug induced neurologic disorders in children

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electromyogram

electron microscopy

electronystagmography

electroretinograph

encephalitis

encephalitis, human immunodeficiency virus type 1

encephalitis, Japanese

encephalitis, viral

encephalomyopathy

encephalopathy

encephalopathy, metabolic

encephalopathy, neonatal

encephalopathy, progressive

enkephalins

enzyme, defect

epidemiology of neurology

epilepsia partialis continua

epileptic encephalopathy

extraocular muscle atrophy

extraocular muscle lesion

eye closure

eye movement, disorders of

Fabry's disease

facial nerve palsy

facial nerve palsy, bilateral

facial nerve, lesion of

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

fine motor function, impaired

foot ulcer, neuropathic

fourth ventricle, enlargement of

frataxin

free radical

Friedreich's ataxia

fundus, abnormality of

gastrointestinal disease, neurologic complications

gastrointestinal motility

genetic neurologic disorders

Hallervorden Spatz disease

headache, sudden onset of

headache, treatment of

hearing loss

hearing loss, bilateral

heart block

hemianopia

hemianopia, alternating

hemianopia, homonymous

hemianopia, recurrent

hemianopia, transient

hemiparesis

hemiparesis, transient

hemiplegia

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

heralding manifestation

herpes simplex encephalitis

herpes simplex encephalitis, differential diagnosis of

herpes simplex encephalitis, recurrent

hiccoughs

hirsutism

histochemistry

histochemistry of muscle

HLA

human immunodeficiency virus type 1

Huntington's chorea

Hurler's syndrome

hydrocephalus

hydrocephalus, viral induced

hyperglycemia

hyperphagia

hyperreflexia

hypertensive encephalopathy

hypoparathyroidism, idiopathic

hypoxic encephalopathy

iatrogenic neurologic disorders

ileus, paralytic

imbalance

impulsivity

inborn errors of metabolism

inclusion bodies

inclusion bodies, intranuclear

inclusion body myositis

infant and newborn with distress, neurologic prognosis in

infant, evaluation of

intellectual deficit

intellectual deterioration

intelligence quotient

internuclear ophthalmoplegia

internuclear ophthalmoplegia, unilateral

intestinal pseudoobstruction

intracranial hypertension, benign

intrauterine

intraventricular hemorrhage

iron, brain

irritability

ischemic exercise test

Jakob-Creutzfeldt disease

Kearns-Sayre syndrome

laminar necrosis, cortical

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

L-dopa, drug interactions with and side effects of

Leber's hereditary optic neuropathy

leg numbness

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of

lenticular nucleus, lesion of, bilateral

lethargy

leukocyte enzyme abnormality

leukodystrophy

leukoencephalopathy

leukoencephalopathy, differential diagnosis

Lewy body

lid closure, weakness of

life expectancy

limbic encephalitis

lipid storage disorder of CNS

lipoma of skin

lipomatosis

lipomatosis, multiple symmetrical

liver disease

locus ceruleus, lesion of

lordosis

lymphoma

lymphoma involving CNS

lymphoma, primary of CNS

macular degeneration

magnetic susceptibility

malaise

malformation, CNS, congenital

manic-depressive

maple syrup urine disease

Marcus Gunn pupil

Marinesco-Sjogren syndrome

MELAS syndrome

Melkersson's syndrome

memory, impairment of

meningioma

meningitis

meningitis, CSF cell count-normal

meningoencephalitis

mental retardation

mental status, abnormal

MERRF syndrome

mesial temporal lobe

mesial temporal sclerosis

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

methanol intoxication

metronidazole

microangiopathy, brain

microcephaly

microhemorrhage, intracerebral

midbrain, lesion of

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

migraine

mimics

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

mitochondrial recessive ataxic syndrome

movement disorder, extrapyramidal

MRI

MRI pattern

MRI, abnormal

MRI, abnormal, seizure causing

MRI, ADC maps

MRI, artifacts

MRI, CAT scan compared to

MRI, complications with

MRI, contrast enhanced

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, muscle

MRI, optic nerve

MRI, paramagnetic effect

MRI, serial

MRI, spinal cord

MRI, spinal cord, increased intramedullary cord signal

MRI, T1 weighted high signal foci

MRI, target sign

MRS

MRS, false negative

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, familial

muscle atrophy, progressive

muscle biopsy

muscle biopsy, extraocular

muscle cramp

muscle pain

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, congenital

muscular dystrophy, differential diagnosis of

muscular dystrophy, Duchenne

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

myasthenia gravis

myasthenia gravis, differential diagnosis

myasthenia gravis, distal weakness

myasthenia gravis, limb-girdle

myasthenia gravis, misdiagnosis of

myasthenia gravis, ocular

myasthenia gravis, seronegative

myasthenic syndrome

myelitis

myelitis, longitudinal

myopathy, centronuclear

myopathy, drug-induced

myopathy, inclusion body

myopathy, inclusion body, hereditary

myopathy, mitochondrial

nemaline rod myopathy

neoplasm, primary of CNS

nephrotic syndrome

neuritis

neuroendocrinology

neurofibrillary degeneration

neurofibromatosis 1

neurogenic vs.myopathic atrophy

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neurologic signs

neurologic symptoms

neuromuscular blockade

neuromuscular junction, abnormality of

neuronal ceroid-lipofuscinosis

neuronopathy, sensory

neurons

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, ataxia, retinitis pigmentosa

neuropathy, hereditary peripheral

neuropathy, peripheral

neuroradiology

neurotoxic

neurotoxin

next-generation sequencing

night blindness

nigrostriatal pathway

normal

nutritional deficiency

nystagmus

nystagmus, gaze-evoked

nystagmus, rotary

obesity

occipital lobe

occipital lobe, infarction

occipital lobe, infarction, bilateral

occipital lobe, lesion of

ocular motility, disorders of

ocular myopathy

ocular myopathy, differential diagnosis

oculopharyngeal muscular dystrophy

old age, neurology of

ophthalmoplegia

ophthalmoplegia, plus syndrome

ophthalmoplegia, progressive external

optic atrophy

optic atrophy, bilateral

optic atrophy, hereditary

optic chiasm

optic chiasm, enlarged

optic chiasm, lesion of

optic disc edema

optic glioma

optic nerve

optic nerve, compression of

optic nerve, enhancement

optic nerve, lesion of

optic nerve, neoplasm of

optic neuritis

optic neuritis, bilateral

optic neuritis, treatment of

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

optic neuropathy, ischemic

optic neuropathy, toxic

optic tract, lesion of

orbicularis oculi muscle

orbit, lesions of

osmotic demyelination syndrome

overlap syndrome

owl's eye sign of spinal cord

oxidative phosphorylation

oxidative phosphorylation defect

paraparesis, familial spastic

paraparesis, spastic

Parkinson disease

Parkinson disease, diagnosis

Parkinson disease, differential diagnosis of

Parkinson disease, etiology of

Parkinson disease, pathogenesis of

Parkinson disease, surgical treatment of

Parkinson disease, treatment of

Parkinsonism syndrome

pigmentary retinopathy

PLEDs

PLEDs, bilateral independent

PLEDs, etiology of

POLG1 gene

polydactyly

polymerase chain reaction

polymerase chain reaction, false negative

polymerase chain reaction, false positive

polymyalgia rheumatica

polymyositis

polyneuropathy

pons, lesion of

posterior cerebral artery territory infarction

posterior leukoencephalopathy syndrome

postictal encephalopathy

prevention of neurologic disorders

prognosis

progressive infantile poliodystrophy

progressive multifocal leucoencephalopathy

progressive myoclonic epilepsy

progressive neurologic disorder

prostigmine

proteinuria

proximal muscle atrophy

pseudomyasthenia

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychomotor retardation

putamen, lesion of, bilateral

pyramidal tract dysfunction

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

radiation therapy, CNS treatment and complications with

radiculopathy

ragged-red fibers

raphe nuclei

rapidly progressing neurologic illness

recurrent

red free light

red free light, fundus exam with

refractive errors

Refsum's disease

remote effect of cancer on the nervous system

renal failure

renal tubular acidosis

research

respiratory failure

respiratory tract infection

restless leg syndrome

retina, abnormal

retinal degeneration

retinal lesion

retinal nerve fiber layer

retinitis pigmentosa

retinopathy

reversible neurologic disorder

review article

Reye's syndrome

Reye's syndrome, adult

seizure, treatment of

senile plaques

sensorineural hearing loss

sensory loss

seronegative

short stature

single photon emission computed tomography

small vessel disease

sore throat

Southern immunoblot test

spastic diplegia

spasticity

speech, loss of

Spielmeyer Vogt syndrome

spinal cord

spinal cord, lesion of

spinal muscular atrophy

spinocerebellar degeneration

spongy degeneration of brain

spontaneous remission

standing difficulty

status epilepticus

Stephens syndrome

steroid therapy, CNS treatment and complications with

stimulation, deep brain

striatal encephalitis

striatonigral degeneration

striatonigral degeneration, infantile

striatum, lesion of

striatum, lesion of, bilateral

subthalamic nucleus deep brain stimulation

succinate dehydrogenase deficiency

suck, poor

sudden death

sumatriptan

symmetric brain lesions

systemic illness

tapetoretinal degeneration

tau protein

tauopathy

temporal lobe, lesion

temporal lobe, lesion, bilateral

term infant

tetany

thalamic tumors

thalamic tumors, bilateral

thalamus

thalamus, infarction of

thalamus, infarction, bilateral

thalamus, lesion of

thalamus, lesion of-bilateral

transient neurologic deficit

treatment of neurologic disorder

tremor

tremor, intention

tremor, thalamic stimulation for suppression of

trinucleotide repeats

triptans

tuberous sclerosis

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

uremic encephalopathy

urine test for metabolic disorders

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity, decreased

visual acuity, decreased, monocular

visual evoked response

visual field defect

visual fields, constricted

visual loss

visual loss, progressive

walking, difficulty with

weakness

weakness, fatiguable

weakness, generalized

weakness, progressive

weaning from respirator, failure to

web sites

weight loss

Wernicke's encephalopathy

wheelchair

Whipple's disease

whistle, inability to

white matter disease

white matter disease, pattern

white matter disease, periventricular

wide based gait

winging of scapula

workup

Showing articles 0 to 50 of 194 Next >>

Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023

A 31-Year-Old Man with Sequential Vision Loss
Neurol 98:163-169, Fortes, B.,et al, 2022

Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022

Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021

"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020

Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
AJNR 39:427-434, Gramegna, L.L.,et al, 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017

A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017

Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017

Longitudinally Extensive Transverse Myelitis in MELAS
Neurol 86:e37, Sgobbi de Souza, P.V.,et al, 2016

Recommendations for the Management of Strokelike Episodes in Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
JAMA 73:591-594, Koenig, M.K.,et al, 2016

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016

A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016

Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015

Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014

Clinical Features of MS Associated with Leber Hereditary Optic Neuropathy mtDNA Mutations
Neurol 81:2073-2081, Pfeffer, G.,et al, 2013

Rapidly Progressive Leukoencephalopathy in Mitochondrial Complex I Deficiency
Neurol 81:e10-e11, Baertling, F.,et al, 2013

Chiasmal Enlargement and Enhancement in Leber Hereditary Optic Neuropathy
Neurol 81:e126-e127, Ong, E.,et al, 2013

Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012

Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012

MELAS
MedLink.com, August, Klopstock, T., 2012

Clinico-Radiological Spectrum of Bilateral Temporal Lobe Hyperintensity: A Retrospective Review
Br J Radiol 85:e782-e792, Sureka, J. & Jakkani, R.K., 2012

Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Alzheimers Disease
NEJM 362:329-344, Querfurth,H.W. &LaFerla,F.M., 2010

The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
Dev Disabil Res Rev 16:129-135, Friedman, S.D.,et al, 2010

Bilateral Thalamic Lesions
AJR 192:W53-W62, Smith,A.B.,et al, 2009

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
Stroke 40:e15-e17, Tzoulis,C. &Bindoff,L.A., 2009

A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008

Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
Clin Radiol 63:1245-1253, Sheerin,F.,et al, 2008

Multiple Simultaneous Cerebral Infarctions in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebrovasc Dis 22:445-446, Gobron,C.,et al, 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

Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006

Cerebral MR Imaging in Uninfected Children Born to HIV-Seropositive Mothers and Perinatally Exposed to Zidovudine
AJNR 26:695-701,687, Tardieu,M.,et al, 2005

Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005

Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004

Alternate-Sided Homonymous Hemianopia as the Solitary Presentation of Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes Syndrome
Chang Gung Med J 26:199-203, Su,WY.,et al, 2003

Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease
AJNR 24:33-41, Lin,D.D.M.,et al, 2003

Showing articles 0 to 50 of 194 Next >>