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acid maltase deficiency
advances in neurology
adverse drug reaction
alpha-fetoprotein
Alzheimer's disease
amyloidosis
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis, diagnosis of
amyotrophic lateral sclerosis, differential diagnosis
amyotrophic lateral sclerosis, epidemiology of
amyotrophic lateral sclerosis, familial
amyotrophic lateral sclerosis, guamian type of
amyotrophic lateral sclerosis, misdiagnosis
amyotrophic lateral sclerosis, work up
anterior horn cell disease
anterior tibial muscle weakness
apraxia of eye movements
areflexia
arthrogryposis multiplex
ataxia
ataxia telangiectasia
ataxia, cerebellar
ataxia, truncal
benign congenital hypotonia
bone marrow biopsy
Brugada syndrome
bulbar palsy
bulbar palsy, progressive
cachexia
CAG repeats
calf hypertrophy
carcinoembryonic antigen
carcinoma
central core disease
cerebellar ataxia, children
cerebellar ataxia, hereditary
cerebellar degeneration
Charcot-Marie-Tooth
chest x-ray, abnormal
children
chorea
choreoathetosis
chromosomal abnormality
chromosome 11
chromosome 5
chronic polyneuritis, children
Clinical Pathologic Conference(C.P.C.)
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congenital myopathy
congestive heart failure
constipation
creatine phosphokinase(CPK)elevated
degenerative diseases of CNS
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denervation of muscle
denervation potentials
dentatorubral-pallidoluysian atrophy
depression
dermatomyositis
developmental milestones
developmental milestones, loss of
developmental retardation
diabetes mellitus
diaphragmatic paralysis
diaphragmatic paralysis, causes of
differential diagnosis
distal muscle atrophy
distal muscle weakness
DNA probes
drooling
dysarthria
dysphagia
dyspnea
dystonia
dystrophin
efficacy
electrocardiogram, abnormal
electromyogram
encephalopathy
encephalopathy, anoxic
encephalopathy, neonatal
enzyme, muscle disease
epidemiology of neurology
eye movement, disorders of
facial weakness, bilateral
facioscapulohumeral syndrome
familial
fasciculation
fatigue
Fazio-Londe's disease
fibrillations
floppy infant
foot drop
fragile-X syndrome
Friedreich's ataxia
gait disorder
gait, waddling
gene
gene mutation
gene therapy
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
growth retardation
Guillain Barre syndrome
gynecomastia
heavy metal intoxication
history of neurology
Hodgkin's disease
huntingtin
Huntington's chorea
hypercapnia
hypertension
hypoglycemia
hypoglycemic coma
hyporeflexia
hypotonia
hypotonia, infants
hypoxic encephalopathy
immunodeficiency
immunosuppression
inclusion bodies
inclusion bodies, eosinophilic cytoplasmic
infant, evaluation of
intestinal pseudoobstruction
intrinsic hand muscles, wasting of
Isaacs syndrome
jaw closure weakness
klippel feil syndrome
Kugelberg-Welander syndrome
leg weakness, bilateral
leg weakness, unilateral
leukemia
lid closure, weakness of
life expectancy
liver disease
lordosis
lymphadenopathy
lymphoma
masseter muscle weakness
mental retardation
misdiagnosis
molecular genetics
monoclonal gammopathy
monomelic amyotrophy
mononeuropathy
mortality
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motor system
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movement disorder, extrapyramidal
MRI
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MRI, spinal cord
multiple myeloma
multiple system atrophy
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muscle atrophy, static
muscle biopsy
muscle cramp
muscle diseases, characteristics of
muscle hypertrophy
muscle pain
muscle wasting, diffuse
muscle weakness
muscle weakness, proximal
muscle, metabolic disorders of
muscular dystrophy
muscular dystrophy, Becker
muscular dystrophy, Becker, carrier
muscular dystrophy, cardiovascular changes with
muscular dystrophy, differential diagnosis of
muscular dystrophy, Duchenne
muscular dystrophy, facioscapulohumeral
muscular dystrophy, limb-girdle
myasthenia gravis
myasthenia gravis, distal weakness
myasthenia gravis, limb-girdle
myasthenic crisis
myocardial injury
myocytolysis
myokymia
myopathy
myopathy, carcinomatous
myopathy, centronuclear
myopathy, mitochondrial
myopathy, quadriceps
myopathy, thyroid disease causing
myositis
myotonia congenita
myotonia dystrophica
nemaline rod myopathy
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neoplasm, primary of CNS
nerve conduction studies
neuritis, causes of
neurocutaneous disease
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neuropathy, hereditary peripheral
neuropathy, motor, multifocal
newborn, evaluation of
nusinersen
ocular motility, disorders of
Onufrowicz nucleus
Oppenheim muscular dystrophy
paraparesis, familial spastic
paraproteinemia
Parkinson disease
pathology
patient information and support
phrenic nerve
placebo
poison, mercury
poison, neurologic problems with
poliomyelitis
polymerase chain reaction
polymyositis
polyneuropathy
porphyria
positive sharp waves
post polio syndrome
preclinical
pregnancy, neurologic complications in
primary lateral sclerosis
progeria
prognosis
progressive muscular dystrophy
progressive neurologic disorder
progressive spinal muscular atrophy
proximal muscle atrophy
pseudohypertrophy
quadriceps atrophy
quadriceps weakness
radiation hypersensitivity
radiculopathy
respiratory failure
review article
RFLPs
risk-benefit assessment
safety
sarcoidosis
scoliosis
scoliosis, neurologic association with
screening
skin, lesions in neurologic disorders
SMN1 gene
spinal cord
spinal cord degeneration
spinal cord, lesion of
spinal cord, pathologic exam of
spinal muscular atrophy
spinal muscular atrophy, adult onset
spinal muscular atrophy, classification
spinal muscular atrophy, intermediate form
spinocerebellar ataxia
spinocerebellar ataxia type 1
spinocerebellar degeneration
stiff man syndrome
subacute sclerosing panencephalitis(S.S.P.E.)Dawson's disease
sudden death
survival motor neuron gene
telangiectases
term infant
testicular atrophy
tongue, fasciculations of
torticollis
treatment of neurologic disorder
tremor
tremor, postural
tricresylphosphate
trinucleotide repeats
tuberous sclerosis
vitamin E
vitamin E deficiency
Waldenstrom's macroglobulinemia
walking, difficulty with
weakness
weakness, generalized
weakness, infant
weakness, progressive
weaning from respirator, failure to
weight loss
Werdnig-Hoffman disease
West disease
wheelchair
whistle, inability to
winging of scapula
workup
X-linked bulbospinal neuronopathy
Showing articles 0 to 50 of 64 Next >>

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020

Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017

Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017

Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014

Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014

Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Kennedy Disease
Arch Neurol 60:893-894, Paparounas,K.,et al, 2003

Mimic Syndromes in Sporadic Cases of Progressive Spinal Muscular Atrophy
Neurol 58:1593-1596, Visser,J.,et al, 2002

Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002

Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000

Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999

MR Findings of Werdnig-Hoffmann Disease in Two Infants
AJNR 19:550-552, Hsu,C.,et al, 1998

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

Lymphoproliferative Disorders and Motor Neuron Disease:An Update
Neurol 48:1671-1678, Gordon,P.H.,et al, 1997

From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996

Neurogenic Muscle Hypertrophy
Muscle & Nerve 19:811-818996., Gutmann,L., 1996

Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996

Motor Neuron Disease Presenting as Acute Respiratory Failure:A Clinical and Pathological Study
JNNP 60:455-458, Chen,R.,et al, 1996

Hypoglycaemia in Spinal Muscular Atrophy
Lancet 346:609-610, Bruce,A.K.,et al, 1995

Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

Clinicopath Conf
Progressive Muscular Atrophy, Case 36-1995, NEJM 333:1406-1412995., , 1995

Intestinal Pseudo-Obstruction in Adult Spinal Muscular Atrophy
Muscle & Nerve 17:946-948994., Ionasescu,V.,et al, 1994

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994

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

Clinicopath Conf
Motor Neuron Disease, Progressive-Muscular-Atrophy Type, Case 43-1992, NEJM 327:1298-130592., , 1992

Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992

Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990

Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990

Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990

X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989

Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
Springer-Verlag, NY, p289988., Swash,M.&Schwartz,M.S., 1988

Clinincopath Conf
Progressive Muscular Atrophy & Diabetic Neuromuscular Disease, Case 21-1987, NEJM 316:1326-13357., , 1987

Location of the Gene for X-Linked Spinal Muscular Atrophy
Neurol 36:1595-1598, Fischbeck,K.H.,et al, 1986

Post-Polio Syndrome
J Med Assoc Ga 74:510-511, Bailey,A.A., 1985

Benign Focal Amyotrophy
Arch Neurol 41:678-679, Riggs,J.E.,et al, 1984

Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983

Benign Familial Spinal Muscular Atrophy With Hypertrophy of the Calves
Arch Neurol 39:657-660, D'Alessandro,R.,et al, 1982

Preservation of the Phrenic Motorneurons in Werdnig-Hoffman Disease
Ann Neurol 9:506-510, Kuzuhara,S.,et al, 1981



Showing articles 0 to 50 of 64 Next >>