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Differential
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abdominal distention
acetylcholine receptor antibody
acid maltase deficiency
acromicria
adverse drug reaction
airway obstruction
aminoacidurias
amitriptyline
amniocentesis
anemia
anemia, megaloblastic
Angelman syndrome
angiokeratoma
anorexia
anterior horn cell disease
antitoxin
antiviral agents
apnea
areflexia
arrhythmia, cardiac
arthrogryposis multiplex
aspartocyclase
ataxia
ataxia, cerebellar
ataxia, truncal
athetosis
athetosis, infant
attention deficit disorder with hyperactivity
autonomic dysfunction
B 12 deficiency
B 12 deficiency, infants
Babinski sign in new born
bacterial infection
basal ganglia, lesion, bilateral
behavior, combative
behavioral disorder
biopterin deficiency
birth injury
bone marrow transplantation
botulinum toxin
botulism
botulism antitoxin
botulism immune globulin
botulism, infant
brain biopsy
breast feeding
breech delivery
bulbar palsy
bulbar palsy, childhood
calcification, intracranial
Canavan's disease
cardiomyopathy
CAT scan
CAT scan, abnormal
celiac disease, childhood
central core disease
central nervous system, infection of
cerebellar disease, eye movement disorder in
cerebellar hypoplasia
cerebral cortical atrophy
cerebral embolism
cerebral gigantism
cerebral infarction
cerebral palsy
cerebral palsy, associated problems with
cerebral venous thrombosis
cerebrospinal fluid
cerebrospinal fluid, elevated protein of
cerebrospinal fluid, protein of
cerebrospinal fluid, red cells in
cerebrospinal fluid, xanthochromia of
cerebrovascular accident
cerebrovascular accident, infancy and childhood
cerebrovascular accident, intrauterine
cerebrovascular accident, neonatal
cerebrovascular accident, postpartum
cervical spine injury
child abuse
children
choreoathetosis
chorioamnionitis
chorioretinitis
chromosomal abnormality
chromosome 1
chromosome 15
chromosome 5
Clinical Pathologic Conference(C.P.C.)
clubfoot as related to neurologic disease
coma
congenital heart disease
congenital infection, CNS
congenital infection, viral
congenital myopathy
congenital myopathy, inflammatory
consanguinity
constipation
contractures, joint
cornea, opacity of
corpus callosum
corpus callosum, thinning
Craniosynostosis
creatine phosphokinase(CPK)elevated
cry, abnormal
cry, weak
crying
crying, pathologic
cryptorchidism
cultured skin fibroblasts
cytomegalic inclusion disease
cytomegalovirus infection
cytomegalovirus infection, congenital
delivery, complicated
dementia
developmental abnormality of brain
developmental disability
developmental milestones
developmental milestones, loss of
developmental retardation
diet
differential diagnosis
diphtheria-tetanus-pertussis immunization
dislocated hip, congenital
DNA sequencing
drooling
drug overdose
dysarthria
dysmorphic
dysostosis multiplex
dysphagia
dystonia
ear, abnormal
eating disorder
ecchymoses
efficacy
electroencephalogram, abnormalities of
electromyogram
electron microscopy
embolism, paradoxical
encephalitis
encephalomyelitis
encephalopathy
encephalopathy, anoxic
encephalopathy, neonatal
enzyme, defect
epidemiology of neurology
exome sequencing
facial appearance, abnormal
facial expression abnormality
facial weakness
facial weakness, bilateral
failure to thrive
familial
fasciculation
feeding disorder
fetal movements, reduced
fetus
fever
fibrillations
floppy infant
fontanel, bulging
food poisoning
food-borne infection
forceps delivery
fucosidosis
gait disorder
gait, apraxic
gammaglobulin therapy, intravenous
gene
gene mutation
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
genital hypoplasia
gluten-free diet
glycogen storage disease
glycoprotein
Gowers maneuver
growth hormone deficiency
growth retardation
Guillain Barre syndrome
Guillain Barre syndrome, infantile and childhood form
hand clapping
hand flapping
hand wringing
head bobbing
head circumference
head lag
hearing loss
hemorrhage, intracranial, newborn
hemorrhage, periventricular
hepatomegaly
hepatosplenomegaly
high arched feet
high arched palate
histochemistry
histochemistry of muscle
hoarseness
homocystinuria
honey
Horner's syndrome
Horner's syndrome, bilateral
Horner's syndrome, congenital
human genome
Hunter's syndrome
hydrocephalus
hydrocephalus, communicating
hydrocephalus, congenital
hydrocephalus, exvacuo
hyperbilirubinemia
hyperbilirubinemia, CNS abnormality after
hyperphagia
hyperpigmentation of skin
hyperreflexia
hypertelorism
hypertension
hypertonia
hypogammaglobulinemia
hypogonadism
hypokinesia
hypopigmentation of skin
hyporeflexia
hypothermia
hypotonia
hypotonia, causes of
hypotonia, infants
hypoxic encephalopathy
imbalance
immunization, neurologic complications with
inappropriate antidiuretic(A.D.H.)hormone
inborn errors of metabolism
infant, evaluation of
infantile neuronal degeneration
infantile spasm
infection, recurrent
intellectual deficit
intellectual deterioration
intestinal biopsy
intracranial hemorrhage
intracranial pressure, increased
intrauterine
intrauterine infection
intrauterine infection, viral
intrauterine infection, viral of CNS
intubation
irritability
irritable baby
jaundice
karyotyping
kyphoscoliosis, neurologic causes of
Leigh's disease
lethargy
leukodystrophy
leukotrienes
lissencephaly
listeria monocytogenes
liver function enzymes
lysosomal storage disease
macrocephaly
malabsorption
malformation, CNS, congenital
malformation, vascular
malignant hyperpyrexia
McArdle's disease
mental retardation
merosin
metabolic disorder, primary
microcephaly
micrognathia
micropthalmia
migraine, seizures in
misdiagnosis
mitochondrial disease
mitral valve prolapse
molecular genetics
mortality
motor neuron disease
MRI
MRI, abnormal
MRI, fetal
MRI, muscle
MRI, spinal cord
MRI, spine
mucopolysaccharidoses
mucopolysacchariduria
muscle atrophy, progressive
muscle atrophy, static
muscle biopsy
muscle diseases, characteristics of
muscle phosphorylase deficiency
muscle weakness
muscle weakness, proximal
muscle-eye-brain disease
muscular dystrophy
muscular dystrophy, central nervous system abnormality
muscular dystrophy, congenital
muscular dystrophy, congenital, Fukuyama type
muscular dystrophy, LAMA2
myasthenia gravis, neonatal
myelomalacia
myoclonic jerks
myopathy
myopathy, centronuclear
myopia
myositis
myotonia congenita
myotonia dystrophica
nasal bridge, wide
neck weakness
nemaline rod myopathy
neonatal infection, viral
neonatal intensive care unit
neonatal screening, genetic neurologic disorders
nerve conduction studies
nerve conduction studies, motor
neurologic disease, diagnoses of
neurologic evaluation
neurologic signs
neuromuscular blockade
neuromuscular disease, electrodiagnosis of
neuromuscular junction, abnormality of
neuronal migration disorder
neuropathology
neuropathology, brain
neurotoxin
newborn, evaluation of
nusinersen
nystagmus
obesity
obstetric neurologic injuries
opened mouth
ophthalmoplegia
ophthalmoplegia, neonatal
ophthalmoplegia, total
optic atrophy
pachygyria
pathology
patient information and support
periventricular leukomalacia
pertussis immunization
petechiae
phenylketonuria, variant form of
PICU
placenta
placenta, infection of
placenta, thrombosis of
pleocytosis of cerebrospinal fluid
pneumoencephalogram(PEG)
poison, neurologic problems with
poliomyelitis
poliomyelitis vaccine
polymerase chain reaction
polymicrogyria
polymyositis
polymyositis, infantile
postpartum
Prader-Labhart-Willi syndrome
precocious puberty
pregnancy, neurologic complications in
premature infant
prenatal
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
prognosis
progressive neurologic disorder
psychomotor retardation
psychosis
psychosis, childhood
ptosis
ptosis, bilateral
quadriparesis
rash
reflex, stretch
reflex, tonic stretch
respirator
respiratory arrest
respiratory depression
respiratory distress syndrome, neurologic status with
respiratory failure
Rett's syndrome
review article
RFLPs
rigid spine syndrome
rubella vaccine
scoliosis
scoliosis, neurologic association with
screaming
screening
segmental demyelination
seizure
seizure, children
seizure, focal
seizure, neonatal
sensorineural hearing loss
serum alanine aminotransferase
short stature
shunt procedure, ventricular
skin, biopsy
skin, lesions in neurologic disorders
small for dates infant, problems in
SMN1 gene
spastic diplegia
speech disorder, childhood
speech, delayed development of
spinal cord, enlargement
spinal cord, injury of
spinal cord, injury, New Born
spinal cord, intramedullary cyst of
spinal cord, transection
spinal muscular atrophy
spinal muscular atrophy, classification
splenomegaly
spongy degeneration of brain
stereotyped behavior
stereotypy
stillbirth
strabismus
subacute sclerosing panencephalitis(S.S.P.E.)Dawson's disease
subdural effusion
subdural hematoma, neonates and infants
subgaleal hematoma
suck, poor
systemic lupus erythematosus
systemic lupus erythematosus, neonatal
systemic lupus erythematosus, neurologic complications with
tachycardia
temper tantrums
temporalis muscle wasting
term infant
tetrahydrobiopterin
thrombocytopenia
titinopathy
titubation
tone, muscle
tongue, fasciculations of
tongue, protrusion of
tonic spasms
toxins, nervous system
toxoplasmosis, CNS
tracheostomy
transilumination of skull
treatment of neurologic disorder
tremor
tremor, intention
tremulousness
trinucleotide repeats
type 1 muscle fiber
ultrasonography, head
urine test for metabolic disorders
vaccination, neurologic complications with
vaccine
vacuum delivery
vasculopathy
vegetarianism
visual impairment
visual loss
vitamin deficiency
walking, difficulty with
weakness
weakness, congenital
weakness, generalized
weakness, infant
weakness, progressive
Werdnig-Hoffman disease
white matter disease
wide based gait
workup
Showing articles 0 to 50 of 1507 Next >>

Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025

Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024

Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024

A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024

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

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016

Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,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

Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009

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

Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006

Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006

A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005

Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000

Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997

Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997

An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997

Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996

Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996

Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996

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

Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994

Adverse Events Following Pertussis and Rubella Vaccines, Summary of a Report of the Institute of Medicine
JAMA 267:392-396, Howson,C.P.&Fineberg,H.V., 1992

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

Transsection of the Spinal Cord Associated with Breech Delivery
Am J Dis Child 146:351-352, DiMario,F.J.&Wood,B.P., 1992

Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
Ann Neurol 32:51-56, Rivkin,M.J.,et al, 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992

Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
Pediatrics 87:159-165, Schreiner,M.S.,et al, 1991

Neonatal Lupus Erythematosus Simulating Transient Myasthenia Gravis at Presentation
J Pediatr 118:417-419, Rider,L.G.,et al, 1991

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990

Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990

Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989

Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988

Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987

The Causes of Cerebral Palsy
JAMA 247:1473-1477, Holm,V.A., 1982

Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980

Congenital Myotonic Dystrophy
Arch Neurol 37:693-696, Argov,Z.,et al, 1980

Subgaleal Hematoma, A Complication of Instrumental Delivery
JAMA 244:1597-1598, Plauche,W.C., 1980

Infantile Neuronal Degeneration Masquerading as Werdnig-Hoffmann Disease
Ann Neurol 8:317-324, Steiman,G.S.,et al, 1980

Intracranial Hemorrhage in the Newborn:Current Understanding & Dilemmas
Neurol 29:632-635, Volpe,J.J., 1979

Nemaline (Rod) Myopathy:The Need for Histochemical Evaluation of Affected Families
Ann Neurol 4:37, Bender,A.N.,et al, 1978



Showing articles 0 to 50 of 1507 Next >>