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Differential
(Click to cross reference)
abducens nerve paralysis, bilateral
acanthocytosis
adrenoleukodystrophy
adverse drug reaction
agammaglobulinemia
aminoacidopathies
ANA
arrhythmia, cardiac
ataxia
ataxia, cerebellar
atrial fibrillation
basal ganglia, calcification of
basal ganglia, lesion, bilateral
Bassen-Kornzweig syndrome
blindness
botulism
brainstem, lesion of
brainstem, tuberculoma of
calcification, intracranial
cardiomegaly
cardiomyopathy
CAT scan
CAT scan, abnormal
CAT scan, dense artery sign
cataracts
cerebral cortical atrophy
cerebral embolism
cerebral embolism, cardiac origin
cerebral infarction
cerebro hepato renal syndrome
cerebrospinal fluid, elevated protein of
cerebrovascular accident
cerebrovascular accident, young adult
children
chronic progressive external ophthalmoplegia
Chvostek sign
Clinical Pathologic Conference(C.P.C.)
Cockayne's syndrome
coenzyme Q10 deficiency
collagen vascular disease
congestive heart failure
conjunctival biopsy
consanguinity
cornea, abnormal
corpus callosum, lesion of
creatine phosphokinase(CPK)elevated
cyst, parenchymal
deafmute
deafness
deep gray nuclei
dementia
diabetes mellitus
diplopia
DNA probes
drug induced neurologic disorders
dwarfism
dysphagia
dystonia
electrocardiogram, abnormal
electroencephalogram, abnormalities of
electron microscopy
electronystagmography
electroretinograph
encephalopathy
extraocular muscle atrophy
extraocular muscle lesion
eye closure
eye movement, disorders of
face, numbness of
facial nerve palsy
facial nerve palsy, bilateral
facial nerve, lesion of
facial weakness
familial
fatigue
Friedreich's ataxia
fundus, abnormality of
gangliosidosis GM1
gangliosidosis, generalized
gargoylism
gaze palsy, horizontal
gene mutation
gene therapy
genetic counselling
genetic linkage
genetic neurologic disorders
glaucoma
Hallervorden Spatz disease
Hallgren's syndrome
headache
hearing loss
heart block
heart murmur
histochemistry of muscle
Hurler's syndrome
hypocalcemia
hypoglycorrhachia
hypomagnesemia
hypoparathyroidism
hypoparathyroidism, idiopathic
hypothyroidism
hypotonia
intestinal pseudoobstruction
Kearns-Sayre syndrome
keratoconus
Laurence-Moon-Bardet-Biedl syndrome
Leber's hereditary optic neuropathy
Leigh's disease
leukocyte enzyme abnormality
leukodystrophy
lid closure, weakness of
macular degeneration
malformation, CNS, congenital
medulla oblongata, lesion of
MELAS syndrome
Melkersson's syndrome
meningitis
mental retardation
MERRF syndrome
metabolic acidosis
metachromatic leukodystrophy
middle cerebellar peduncle, lesion
middle cerebellar peduncle, lesion, bilateral
misdiagnosis
mitochondrial disease
mitochondrial encephalomyopathy
mitral valve lesion
mitral valve prolapse
MNGIE syndrome
molecular genetics
MRI
MRI pattern
MRI, abnormal
MRI, contrast enhanced
MRI, diffusion weighted
mucopolysaccharidoses
muscle biopsy
muscle biopsy, extraocular
muscle cramp
muscle weakness, proximal
muscular dystrophy
muscular dystrophy, congenital
myasthenia gravis
myasthenia gravis, differential diagnosis
myasthenia gravis, misdiagnosis of
myasthenia gravis, ocular
myasthenia gravis, seronegative
myasthenic syndrome
myelopathy
myoclonus
myoclonus, epilepsy
myopathy
myopathy, mitochondrial
myopia
myotonia
myotonia dystrophica
neck weakness
neuritis
neuroaxonal dystrophy
neuroendocrinology
neurologic complications of, systemic cancer
neurologic disease, diagnoses of
neurologic symptoms
neuromuscular blockade
neuromuscular disease, electrodiagnosis of
neuromuscular junction, abnormality of
neuronal ceroid-lipofuscinosis
neuroophthalmology
neuropathy
neuropathy, ataxia, retinitis pigmentosa
neuropathy, hereditary peripheral
Niemann-Pick disease
night blindness
obesity
ocular myopathy
oculopharyngeal muscular dystrophy
ophthalmoplegia
ophthalmoplegia, plus syndrome
ophthalmoplegia, progressive external
optic atrophy
optic nerve
optic neuropathy
orbicularis oculi muscle
pancytopenia
peroxisomal disease
pigmentary retinopathy
pleocytosis of cerebrospinal fluid
polydactyly
pons, lesion of
prognosis
prostigmine
pseudomyasthenia
pseudoretinitis pigmentosa
psychiatric disorder
psychiatric problems in neurologic disorders
ptosis
ptosis, bilateral
pulmonary infiltrates
pyruvate metabolism, abnormality of
radiculopathy
ragged-red fibers
Raynaud's phenomenon
refractive errors
Refsum's disease
renal tubular acidosis
retinal degeneration
retinal lesion
retinitis pigmentosa
retinopathy
review article
schizophrenia
scleroderma
scleroderma, neurologic involvement with
sedimentation rate
seizure
sensorineural hearing loss
seronegative
short stature
skin, biopsy
skin, tight
Southern immunoblot test
Spielmeyer Vogt syndrome
spinocerebellar degeneration
spongy degeneration of brain
Stephens syndrome
succinate dehydrogenase deficiency
sudden death
symmetric brain lesions
tapetoretinal degeneration
tetany
thalamus, lesion of-bilateral
tongue, fasciculations of
treatment of neurologic disorder
tuberculoma of CNS
tuberculosis
tuberculosis, miliary
Usher's syndrome
visual field defect
visual fields, constricted
visual loss
weakness
weakness, fatiguable
weakness, generalized
weight loss
white matter disease
white matter disease, pattern
Showing articles 0 to 32 of 32

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

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

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

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

Cerebral Infarction Associated with Kearns-Sayre Syndrome-Related Cardiomyopathy
Neurol 46:826-828, Provenzale,J.M.,et al, 1996

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

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

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

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

Kearns-Sayre Syndrome and Dilated Cardiomyopathy
Neurol 40:553-554, Tveskov,C.&Angelo-Nielsen,K., 1990

Kearns-Sayre Syndrome Presenting as Renal Tubular Acidosis
Neurol 40:1761-1763, Eviatar,L.,et al, 1990

Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 1989

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
NEJM 320:1293-1299, Moraes,C.T.,et al, 1989

Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
Ann Neurol 26:699-708, Hold,I.J.,et al, 1989

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987

Abnormalities of Eyelid Closure
In Walsh & Hoyt's Clinical Neuro-ophthalmology, Williams & Wilkins, Baltimore, 2:967, Miller,M.R., 1985

Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985

Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985

Abrupt Neurological Deterioration in Children With Kearns-Sayre Syndrome
Arch Neurol 38:247-250, Coulter,D.L.,et al, 1981

Ophthalmoplegia-Plus
Arch Neurol 38:423-426, Okamoto,T.,et al, 1981

An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981

Mitral Valve Prolapse & Ophthalmoplegia:A Progressive, Cardioneurologic Syndrome
Ann Int Med 92:735-741, Darsee,J.R.,et al, 1980

Demyelinating Radiculopathy in the Kearns-Sayre Syndrome:A Clinicopathological Study
Ann Neurol 8:373-380, Groothuis,D.R.,et al, 1980

Familial Kearns-Sayre syndrome
Neurol 29:1172-1174, Schnitzler,E.R.,et al, 1979

Basal Ganglia Calcification in Kearns-Sayre Syndrome
Arch Neurol 36:711-713, Robertson,W.C.Jr., 1979

Extraocular Muscle Biopsy in Chronic Progressive External Ophthalmoplegia
Ann Neurol 6:326-339, Ringel,S.P.,et al, 1979

Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978

Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978

Leukoencephalopathy in Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers
Arch Neurol 35:643-647, Bertorini,T.,et al, 1978

Case Records of MGH-NEJM 289:366
1973 Tuberculoma of Cerebral hemisphere & Brain Stem., , 1973

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972



Showing articles 0 to 32 of 32