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Differential
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abdominal distention
acanthocytosis
acquired immunodeficiency syndrome
adrenoleukodystrophy
advances in neurology
adverse drug reaction
agammaglobulinemia
alcoholism
aminoacidopathies
anterior tibial muscle weakness
anticonvulsants
anticonvulsants, selection of
aphasia
areflexia
arrhythmia, cardiac
aspirin
asymptomatic
ataxia
ataxia, cerebellar
ataxia, progressive
ataxic gait
autoimmune disease
azidodeoxythymidine
basal ganglia, calcification of
basal ganglia, infarction
basal ganglia, lesion, bilateral
Bassen-Kornzweig syndrome
blindness
blindness, sudden
botulism
brain biopsy
brainstem, lesion of
cachexia
calcification, intracranial
carcinoma
cardiomegaly
cardiomyopathy
CAT scan
CAT scan, abnormal
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
cause of death
central core disease
central nervous system, infection of
cerebellar ataxia, primary
cerebellar atrophy, secondary
cerebellar degeneration
cerebral blood flow
cerebral cortical atrophy
cerebral edema, cytotoxic
cerebral embolism
cerebral embolism, cardiac origin
cerebral glucose metabolism
cerebral infarction
cerebro hepato renal syndrome
cerebrospinal fluid, elevated protein of
cerebrospinal fluid, lactic acid concentration
cerebrovascular accident
cerebrovascular accident, familial occurrence
cerebrovascular accident, infancy and childhood
cerebrovascular accident, mimics
cerebrovascular accident, multiple
cerebrovascular accident, nonvascular territory
cerebrovascular accident, recurrent
cerebrovascular accident, young adult
cherry red spot-myoclonus syndrome
children
chromosomal abnormality
chronic progressive external ophthalmoplegia
Chvostek sign
Clinical Pathologic Conference(C.P.C.)
Cockayne's syndrome
coenzyme Q10
coenzyme Q10 deficiency
coma
congenital birth defects
congenital myopathy
consanguinity
cornea, abnormal
corpus callosum, lesion of
cortical blindness
cranial neuropathy, multiple
creatine phosphokinase(CPK)elevated
cricopharyngeal bar
cultured skin fibroblasts
cyst, parenchymal
cytochrome c oxidase
cytochrome c oxidase, deficiency
deafmute
deafness
deep gray nuclei
degenerative diseases of CNS
dementia
dementia, rapidly progressive
dentatorubral-pallidoluysian atrophy
depression
developmental retardation
diabetes mellitus
diarrhea
differential diagnosis
diplopia
distal muscle weakness
dizziness
DNA probes
drug induced neurologic disorders
dwarfism
dyschromatopsia
dysphagia
dyspraxia
dystonia
Ekbom's Syndrome
electrocardiogram, abnormal
electroencephalogram, abnormalities of
electromyogram
electron microscopy
electronystagmography
electroretinograph
encephalomyopathy
encephalopathy
encephalopathy, progressive
enzyme, defect
epilepsia partialis continua
evoked potentials
exercise
exercise intolerance
extraocular muscle atrophy
extraocular muscle lesion
eye closure
eye movement, disorders of
facial nerve palsy
facial nerve palsy, bilateral
facial nerve, lesion of
facial weakness
facial weakness, bilateral
facioscapulohumeral syndrome
failure to thrive
falling
false negative
familial
fatigue
fever
fibrillations
foot drop
foot ulcer, neuropathic
Friedreich's ataxia
fundus, abnormality of
gadolinium
gait disorder
gargoylism
gastrointestinal disease, neurologic complications
gastrointestinal motility
gastroparesis
gaze palsy
gene
gene mutation
gene therapy
genetic counselling
genetic linkage
genetic neurologic disorders
genetic testing
glaucoma
gonadal dysgenesis
growth retardation
Hallervorden Spatz disease
Hallgren's syndrome
headache
headache, sudden onset of
hearing loss
heart block
hemianopia
hemianopia, homonymous
hemianopia, transient
hemiparesis
hepatic failure
hepatomegaly
heralding manifestation
herpes simplex encephalitis
herpes simplex encephalitis, differential diagnosis of
hirsutism
histochemistry of muscle
human immunodeficiency virus type 1
Huntington's chorea
Hurler's syndrome
hydrocephalus
hypocalcemia
hypomagnesemia
hypoparathyroidism
hypoparathyroidism, idiopathic
hypothyroidism
hypotonia
ileus, paralytic
imbalance
impulsivity
inclusion bodies
inclusion bodies, intranuclear
inclusion body myositis
intellectual deficit
intellectual deterioration
intelligence quotient
intestinal pseudoobstruction
ischemic exercise test
Kearns-Sayre syndrome
keratoconus
lactate
lactic acidemia
Lafora's disease
laminar necrosis, cortical
Laurence-Moon-Bardet-Biedl syndrome
Leber's hereditary optic neuropathy
leg numbness
leg weakness, bilateral
Leigh's disease
lenticular nucleus, lesion of, bilateral
leukocyte enzyme abnormality
leukodystrophy
leukoencephalopathy
lid closure, weakness of
life expectancy
lipoma of skin
lipomatosis
lipomatosis, multiple symmetrical
lordosis
macular degeneration
malaise
malformation, CNS, congenital
MELAS syndrome
Melkersson's syndrome
memory, impairment of
mental retardation
MERRF syndrome
microangiopathy, brain
middle cerebellar peduncle, lesion
middle cerebellar peduncle, lesion, bilateral
migraine
mimics
misdiagnosis
mitochondrial disease
mitochondrial disease, pathogenesis
mitochondrial encephalomyopathy
mitochondrial recessive ataxic syndrome
MNGIE syndrome
molecular genetics
mortality
motor neuron disease
movement disorder
MRI
MRI pattern
MRI, abnormal
MRI, CAT scan compared to
MRI, contrast enhanced
MRI, diffusion weighted
MRI, disappearing lesion on
MRI, muscle
MRI, serial
MRS
mucopolysaccharidoses
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
myelopathy
myoclonic jerks
myoclonus
myoclonus, epilepsy
myoglobinuria
myopathy
myopathy, centronuclear
myopathy, drug-induced
myopathy, inclusion body
myopathy, inclusion body, hereditary
myopathy, mitochondrial
myopathy, proximal
myopathy, toxic
myopathy, vacuolar
myopia
myotonia
myotonia dystrophica
nausea and vomiting
neck weakness
negative
nemaline rod myopathy
neoplasm, primary of CNS
nephrotic syndrome
neuritis
neuroendocrinology
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
neurons
neuroophthalmology
neuropathology
neuropathy
neuropathy, ataxia, retinitis pigmentosa
neuropathy, hereditary peripheral
neuropathy, peripheral
next-generation sequencing
night blindness
normal
nystagmus
obesity
occipital lobe, infarction
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, hereditary
optic disc edema
optic nerve
optic nerve, compression of
optic neuropathy
optic neuropathy, bilateral
optic neuropathy, hereditary
orbicularis oculi muscle
orbit, lesions of
pain
pain, abdominal
pancytopenia
paraparesis
paraparesis, spastic
Parkinsonism syndrome
periodic paralysis
peroxisomal disease
personality change
pes cavus
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
prognosis
progressive infantile poliodystrophy
progressive myoclonic epilepsy
progressive neurologic disorder
prostigmine
proteinuria
proximal muscle atrophy
pseudomyasthenia
pseudoretinitis pigmentosa
psychiatric disorder
psychiatric problems in neurologic disorders
psychological testing
psychosis
psychosis, acute
ptosis
ptosis, bilateral
ragged-red fibers
rapidly progressing neurologic illness
refractive errors
Refsum's disease
renal failure
research
respiratory tract infection
retina, abnormal
retinal degeneration
retinal lesion
retinitis pigmentosa
retinopathy
review article
Reye's syndrome
Reye's syndrome, adult
RFLPs
rhabdomyolysis
Romberg's sign
schizophrenia
screening
seizure
seizure, focal
seizure, paradoxical
seizure, treatment of
sensorineural hearing loss
sensory loss
seronegative
short stature
single photon emission computed tomography
sore throat
Southern immunoblot test
spasticity
Spielmeyer Vogt syndrome
spinal muscular atrophy
spinocerebellar degeneration
spongy degeneration of brain
standing difficulty
Stephens syndrome
strokelike episodes
succinate dehydrogenase deficiency
symmetric brain lesions
systemic illness
tapetoretinal degeneration
temporal lobe, lesion
thalamus, lesion of-bilateral
treatment of neurologic disorder
trinucleotide repeats
undiagnosed
Unverricht-Lundborg disease
upgaze, paralysis of
Usher's syndrome
viral infection, CNS
visceral neuropathy
vision, failure of in childhood
visual acuity, decreased
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
whistle, inability to
white matter disease
white matter disease, pattern
wide based gait
winging of scapula
workup
Showing articles 0 to 50 of 1102 Next >>

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

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

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

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

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

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

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

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

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

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

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

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

Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003

A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 2002

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

The Incidence of Mitochondrial Encephalomyopathies in Childhood: Clinical Features and Morphological, Biochemical, and DNA Abnormalities
Ann Neurol 49:377-383, Darin,N.,et al, 2001

Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999

Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 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

MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998

Atrophy of Bilateral Extraocular Muscles
J Neuro-Ophthalmol 16:286-288, Okamoto,K.,et al, 1996

Multiple Mitochondrial DNA Deletions in Sporadic Inclusion Body Myositis:A Study of 56 Patients
Ann Neurol 39:789-795, Santorelli,F.M.,et al, 1996

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

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996

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

Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995

Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995

Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995

Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995

Evidence for Cardioembolic Stroke in a Case of Kearns-Sayre Syndrome
Stroke 26:1950-1952, Kosinski,C.,et al, 1995

Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995

Ekbom's Syndrome:Lypomas, Ataxia, and Neuropathy with MERRF
Muscle & Nerve 17:943-945994., Calabresi,P.,et al, 1994

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

The Syndrome of MELAS Presenting without Stroke
Arch Neurol 50:275-278, Mosewich,R.K.,et al, 1993

Cerebral Blood Flow in Mitochondrial Myopathy, Encephalopathy, lactic Acidosis, & Strokelike episodes
Stroke 24:304-309, Ooiwa,Y.,et al, 1993

Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993

Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993

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

Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992

Polymyalgia Rheumatica and Mitochondrial Myopathy:Clinicopathologic and Biochemical Studies in Five Cases
Am J Med 92:167-172, Harle,J.,et al, 1992

Cardioskeletal Mitochondrial Myopathy Associated with Chronic Magnesium Deficiency
Neurol 42:128-130, Riggs,J.E.,et al, 1992

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) :Clin Features & DNA Mutation
Neurol 42:545-550, Goto,Y.,et al, 1992



Showing articles 0 to 50 of 1102 Next >>