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Differential
(Click to cross reference)
arrhythmia, cardiac
ataxia
basal ganglia, calcification of
Behr's optic atrophy
bitemporal visual field defect
blindness
blindness, sudden
cardiomyopathy
cataracts
cerebrospinal fluid, abnormal
cerebrospinal fluid, oligoclonal IgG in
cerebrovascular accident
cerebrovascular accident, young adult
children
chronic progressive external ophthalmoplegia
Clinical Pathologic Conference(C.P.C.)
coenzyme Q10 deficiency
color vision
color vision, impaired
dementia
diabetes mellitus
diplegia, brachial
dyschromatopsia
dystonia
encephalopathy
exome sequencing
false negative
familial
flaccid paralysis
fundus, abnormality of
funduscopic exam
gene
gene mutation
gene therapy
genetic counselling
genetic neurologic disorders
genetic testing
headache
hearing loss
heart block
HLA
hydrocephalus, viral induced
intestinal pseudoobstruction
intracranial hypertension, benign
Kearns-Sayre syndrome
Leber's hereditary optic neuropathy
Leigh's disease
leukocyte enzyme abnormality
Marcus Gunn pupil
MELAS syndrome
meningioma
MERRF syndrome
misdiagnosis
mitochondrial disease
mitochondrial encephalomyopathy
MNGIE syndrome
molecular genetics
movement disorder
MRI
MRI, abnormal
MRI, contrast enhanced
MRI, optic nerve
MRI, spinal cord
multiple sclerosis
multiple sclerosis, differential diagnosis of
myelitis, longitudinal
myelopathy
myoclonus
myopathy
myopathy, mitochondrial
neurologic complications of, systemic cancer
neurologic disease, diagnoses of
neuropathy
neuropathy, ataxia, retinitis pigmentosa
nutritional deficiency
ophthalmoplegia
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
owl's eye sign of spinal cord
pancytopenia
pigmentary retinopathy
psychiatric problems in neurologic disorders
ptosis
ragged-red fibers
red free light
red free light, fundus exam with
retinal degeneration
retinal nerve fiber layer
retinopathy
review article
RFLPs
scotoma
scotoma, central
seizure
sensorineural hearing loss
short stature
spinal cord, lesion of
treatment of neurologic disorder
vision loss, sequential
vision, blurred
vision, failure of in childhood
visual acuity, decreased
visual acuity, decreased, monocular
visual evoked response
visual field defect
visual loss
visual loss, slow
visual loss, sudden
vitamin deficiency
weight loss
Showing articles 0 to 50 of 5628 Next >>

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

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

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

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

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

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

Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002

Optic Neuropathy
Neurol 46:315-322, Newman,N.J., 1996

Bilateral Simultaneous Optic Neuropathy in Adults:Clinical, Imaging, Serological, and Genetic Studies
JNNP 58:70-74, Morrissey,S.P.,et al, 1995

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

High Resolution MRI of Anterior Visual Pathway in Pts with Optic Neuropathies Using Fast Spin Echo & Phased Array Local Coils
JNNP 58:562-569, Gass,A.,et al, 1995

Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutations in Multiple Sclerosis
Ann Neurol 36:109-112, Kellar-Wood,H.,et al, 1994

Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993

Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993

Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993

Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992

Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990

A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989

A Defect in Mitochondrial Electron-Transport Activity in Leber's Hereditary Optic Neuropathy
NEJM 320:1331-1333, Parker,W.D.,et al, 1989

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

Bilateral Optic Neuropathy with Remission in Young Men, Variation on a Theme by Leber
Arch Neurol 40:2-6, Lessell,S.,et al, 1983

Ophthalmoscopy of the Retinal Nerve Fiber Layer
Arch Neurol 39:226-233, Newman,N.M.,et al, 1982

Leber's Optic Neuropathy
Editorial, BMJ 280:1097-10981980., , 1980

Dominant Juvenile Optic Atrophy
Arch Ophthalmol 85:133, Caldwell,J.,et al, 1971

A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021

A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016

Neuromyelitis Optica Spectrum Disorders
UpToDate, May, Glisson,C.C., 2016

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
Adams & Victors Principles of Neurology, Chp 37, pg 959, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012

Familial Neuromyelitis Optica
Neurol 75:310-315, Matiello,M., et al, 2010

Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004

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

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

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

Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995

Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
Neurol 33:4-9, Nishino,H.,et al, 1993

Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993

MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992

Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992



Showing articles 0 to 50 of 5628 Next >>