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acanthocytosis
acetazolamide
acid maltase deficiency
adrenoleukodystrophy
advances in neurology
adverse drug reaction
airway obstruction
alveolar hypoventilation
amniocentesis
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis, epidemiology of
amyotrophic lateral sclerosis, familial
amyotrophic lateral sclerosis, guamian type of
anesthesia, general
anterior tibial muscle weakness
antiarrhythmic drugs
antibodies to voltage-gated calcium channels
anticonvulsants
antihistamines
aqueduct of Sylvius, stenosis
aqueductal stenosis
arrhythmia, cardiac
arthrogryposis multiplex
ataxia
ataxia, cerebellar
ataxia, paroxysmal
autoimmune disease
automatic implantable cardioverter-defibrillator
baldness
Bassen-Kornzweig syndrome
benign congenital hypotonia
blindness
botulism
brainstem, lesion of
calcium antagonist
calcium channel dysfunction
carbamazepine
carcinoma
cardiac surgery, neurologic complications with
cardiac transplantation
cardiomyopathy
CAT scan
CAT scan, abnormal
CAT scan, muscle
cataracts
cataracts, congenital
central core disease
central nervous system, infection of
cerebellar hypoplasia
cerebral cortical atrophy
Charcot-Marie-Tooth
chewing, impaired
children
chloride channel dysfunction
chromosomal abnormality
chromosome 1
chronic polyneuritis, children
chronic progressive external ophthalmoplegia
Clinical Pathologic Conference(C.P.C.)
clubfoot as related to neurologic disease
Coats syndrome
Cockayne's syndrome
complications
conduction block
congenital birth defects
congenital heart disease
congenital myopathy
congestive heart failure
consanguinity
contractures, joint
controversies in neurology
cornea, abnormal
cornea, opacity of
corpus callosum
corpus callosum, thinning
creatine phosphokinase(CPK)elevated
cry, weak
deafmute
deafness
degenerative diseases of CNS
developmental disability
developmental milestones
developmental retardation
differential diagnosis
dilantin
disability, neurological
distal muscle weakness
dropped head syndrome
drug induced neurologic disorders
dwarfism
dystroglycanopathies
dystrophin
dystrophin associated proteins
ejection fraction
ejection fraction, abnormal
electrocardiogram, abnormal
electroencephalogram, abnormalities of
electromyogram
electron microscopy
Emery-Dreifuss muscular dystrophy
encephalocele
encephalopathy
encephalopathy, anoxic
encephalopathy, neonatal
epidemiology of neurology
eye closure
facial appearance, abnormal
facial expression abnormality
facial nerve palsy
facial nerve palsy, bilateral
facial nerve, lesion of
facial weakness
facial weakness, bilateral
facioscapulohumeral syndrome
falling
familial
familial hemiplegic migraine
Fazio-Londe's disease
feeding disorder
fetal movements, reduced
fetus
floppy infant
foot drop
Friedreich's ataxia
frontal balding
gait disorder
gargoylism
gene
gene mutation
gene therapy
genetic counselling
genetic diagnosis
genetic diagnosis, prenatal
genetic neurologic disorders
genetic testing
glaucoma
glycosyltransferase
Gowers maneuver
Hallgren's syndrome
heart block
heavy metal intoxication
high arched feet
high arched palate
histochemistry
histochemistry of muscle
Huntington's chorea
Hurler's syndrome
hydrocephalus
hydrocephalus, congenital
hyperkalemic periodic paralysis
hypokalemia
hypokalemic periodic paralysis
hyporeflexia
hypotonia
hypotonia, causes of
hypotonia, infants
hypoxic encephalopathy
immunohistochemistry
inclusion bodies
inclusion bodies, eosinophilic cytoplasmic
inclusion body myositis
joint hypermobility
kaliuresis
Kearns-Sayre syndrome
keratoconus
Kugelberg-Welander syndrome
laminopathies
Laurence-Moon-Bardet-Biedl syndrome
leukodystrophy
lid closure, weakness of
life expectancy
lissencephaly
LMNA gene
lordosis
macrocephaly
malformation, CNS, congenital
malignant hyperpyrexia
Melkersson's syndrome
mental retardation
merosin
metabolic acidosis
mexiletine
micrognathia
micropthalmia
migraine
misdiagnosis
mitochondrial disease
mitochondrial encephalomyopathy
molecular genetics
motor neuron disease
MRI
MRI, abnormal
MRI, disappearing lesion on
MRI, muscle
MRI, serial
mucopolysaccharidoses
muscle atrophy, progressive
muscle biopsy
muscle cramp
muscle hypertrophy
muscle pain
muscle stiffness
muscle weakness
muscle weakness, proximal
muscular dystrophy
muscular dystrophy, Becker
muscular dystrophy, cardiovascular changes with
muscular dystrophy, central nervous system abnormality
muscular dystrophy, classification
muscular dystrophy, congenital
muscular dystrophy, congenital, Fukuyama type
muscular dystrophy, congenital, Ullrich
muscular dystrophy, differential diagnosis of
muscular dystrophy, Duchenne
muscular dystrophy, facioscapulohumeral
muscular dystrophy, LAMA2
muscular dystrophy, limb-girdle
muscular dystrophy, neurogenic hypothesis of
myasthenia gravis
myasthenia gravis, distal weakness
myasthenia gravis, limb-girdle
myoglobinuria
myopathy
myopathy, centronuclear
myopathy, distal
myopathy, drug-induced
myopathy, mitochondrial
myopia
myotonia
myotonia congenita
myotonia dystrophica
myotonia dystrophica, classification
myotonia, treatment of
neck weakness
nemaline rod myopathy
neoplasm, metastatic to CNS
neoplasm, primary of CNS
neuritis
neurofibrillary degeneration
neurologic complications of, systemic disease
neurologic disease
neurologic disease, diagnoses of
neurologic evaluation
neuropathology, brain
neuropathy
newborn, evaluation of
nifedipine
obesity
ocular myopathy
oculopharyngeal muscular dystrophy
opened mouth
ophthalmoplegia
Oppenheim muscular dystrophy
orbicularis oculi muscle
pacemaker, cardiac-transvenous
paramyotonia congenita
paresthesias
paroxysmal neurologic deficits
percussion induced muscle contraction
periodic paralysis
poison, mercury
poison, neurologic problems with
polydactyly
polymerase chain reaction
polymerase chain reaction, false negative
polymerase chain reaction, false positive
polymicrogyria
polymyositis
polymyositis, infantile
postoperative neurologic complications
potassium channel antibodies
potassium channel dysfunction
pregnancy, neurologic complications in
prenatal diagnosis by amniocentesis
procainamide
progeria
prognosis
progressive muscular dystrophy
progressive neurologic disorder
pseudoretinitis pigmentosa
psychiatric disorder
psychomotor retardation
ptosis
quality of life
respirator
respiratory failure
retinal detachment
retinal dysplasia
retinitis pigmentosa
retinopathy
review article
rhabdomyolysis
rigid spine syndrome
schizophrenia
scoliosis
seizure
skin, biopsy
sloped shoulders
sodium channel dysfunction
Spielmeyer Vogt syndrome
spinal muscular atrophy
spinocerebellar ataxia
spinocerebellar ataxia type 6
steroid
suck, poor
sudden death
syncope
systemic illness
temporalis muscle wasting
term infant
tocainide
transverse smile
treatment of neurologic disorder
tricresylphosphate
trinucleotide repeats
tubular aggregates, muscle
ultrasonography
Usher's syndrome
viral infection, CNS
visual field defect
visual fields, constricted
vital capacity
Walker-Warburg syndrome
walking, difficulty with
weakness
weakness, congenital
weakness, generalized
weakness, progressive
weaning from respirator, failure to
Werdnig-Hoffman disease
wheelchair
whistle, inability to
white matter disease
wide based gait
winging of scapula
workup
x-linked hydrocephalus
x-linked mental retardation
Showing articles 150 to 200 of 1797 << Previous Next >>

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995

Deficiency of Brain Synaptic Dystrophin in Human Duchenne Muscular Dystrophy
Ann Neurol 38:446-449, Kim,T.W.,et al, 1995

Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995

Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
JAMA 274:813-819, Tokgozoglu,L.S.,et al, 1995

Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
Muscle & Nerve 18:782-783995., Stoll,G.,et al, 1995

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

Primary Adhalin Deficiency as a Cause of Muscular Dystrophy in Patients with Normal Dystrophin
Ann Neurol 38:367-372, 3531995., Ljunggren,A.,et al, 1995

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

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

Becker Muscular Dystrophy with Onset after 60 Years
Neurol 44:2388-2390, Heald,A.,et al, 1994

Facioscapulohumeral Muscular Dystrophy in Early Childhood
Arch Neurol 51:387-394, Brouwer,O.F.,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

Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994

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

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Myotonic Dystrophy with No Trinucleotide Repeat Expansion
Neurol 35:269-272, 2551994., Thornton,C.A.,et al, 1994

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Cardiomyopathy May Be the Only Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy
Neurol 43:2342-2345, Mirabella,M.,et al, 1993

Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993

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

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

Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993

Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
NEJM 329:915-920, Sancho,S.,et al, 1993

Duchenne Muscular Dystrophy:Deficiency of Dystrophin-Associated Proteins in the Sarcolemma
Neurol 43:795-800, Ohlendieck,K.,et al, 1993

Gene Therapy for Duchenne Dystrophy
Ann Neurol 34:3-4, Engel,A.G., 1993

Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993

Cerebral Abnormalities in Myotonic Dystrophy
Arch Neurol 50:917-923, Chang,L.,et al, 1993

Cyclosporine Increases Muscular Force Generation in Duchenne Muscular Dystrophy
Neurol 43:527-532, Sharma,K.R.,et al, 1993

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993

Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993

Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993

Diag of Occult Muscular Dystrophy:"Chance"Finding of Elevated Serum Aminotransferase Act
J Pediatr 122:254-256, Morse,R.P.&Rosman,N.P., 1993

Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
BMJ 306:357-360, 3491993., Bradley,D.M.,et al, 1993

Duchenne Dystrophy:Randomized, Controlled Trial of Prednisone (18 months) & Azathioprine (12 months)
Neurol 43:520-527, Griggs,R.C.,et al, 1993

Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992

Upper Gastrointestinal Tract Motility in Children with Progressive Muscular Dystrophy
J Pediatr 121:720-724, Staiano,A.,et al, 1992

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

Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992

Dystrophinopathy in Isolated Cases of Myopathy in Females
Neurol 42:967-975, Hoffman,E.P.,et al, 1992

Detection of Duchenne and Becker MD Carriers by Quant Multiplex Polymerase Chain Reaction
Neurol 42:1783-1790, Ioannou,P.,et al, 1992

Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992

Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992

Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992

Phenotypic Expression of the Myotonic Dystrophy Gene in Monozygotic Twins
Neurol 42:1815-1817, Dubel,J.R.,et al, 1992

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992

Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992

Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992

ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992

The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992



Showing articles 150 to 200 of 1797 << Previous Next >>