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Differential
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abdominal distention
acetylcholine receptor antibody
acid maltase deficiency
acid maltase deficiency, adult
aciduria
acquired immunodeficiency syndrome
acquired immunodeficiency syndrome dementia complex
acquired immunodeficiency syndrome, congenital
acquired immunodeficiency syndrome, infants and children
acrocyanosis
acromicria
acute intermittant porphyria
adrenoleukodystrophy
adverse drug reaction
agenesis of corpus callosum
Aicardi-Goutieres syndrome
airway obstruction
alcohol
algorithm
alopecia
alpha glucosidase
alpha-fetoprotein
alternating hemiplegia
alternating hemiplegia of childhood
alveolar hypoventilation
amaurosis fugax, unilateral vs.bilateral
aminoacidopathies
aminoacidurias
aminoacylase 1 deficiency
amitriptyline
amniocentesis
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis, differential diagnosis
aneurysm, aortic arch
Angelman syndrome
angiokeratoma
ankle edema
ankle, swelling of
anorexia
anterior horn cell disease
antitoxin
antiviral agents
aortic arch stenosis
aortic arch study
aortitis
apnea
apraxia of eye movements
areflexia
aromatic amino acid decarboxylase deficiency
arrhythmia, cardiac
arterial dissection, aorta
arteritis, temporal
arthralgia
arthrogryposis multiplex
ascites
aspartate aminotransferase
aspartocyclase
ataxia
ataxia telangiectasia
ataxia, cerebellar
ataxia, progressive
ataxia, truncal
ataxic gait
athetosis
athetosis, infant
atypical
audiogram
auditory and vestibular pathways
autism
autoantibodies
autoimmune disease
autonomic dysfunction
axonal degeneration
B 12 deficiency
B 12 deficiency, infants
Babinski sign
Babinski sign in new born
baclofen
bacterial infection
basal ganglia, calcification of
basal ganglia, degeneration
basal ganglia, lesion of
basal ganglia, lesion, bilateral
behavior
behavior, combative
behavioral disorder
biologic markers
biopterin deficiency
biotin
biotin deficiency
biotin deficiency, acquired
biotin deficiency, juvenile form
biotinidase deficiency
birth injury
blindness
blindness, sudden
bone biopsy
bone density
bone density, increased
bone marrow biopsy
bone marrow transplantation
botulinum toxin
botulism
botulism antitoxin
botulism immune globulin
botulism, infant
bradycardia
brain atrophy
brain biopsy
brainstem, atrophy
brainstem, lesion of
breast feeding
breech delivery
Brown-Vialetto-Van Laere syndrome
brucellosis
brucellosis, nervous system involvement with
bruit
bulbar palsy
bulbar palsy, childhood
burning feet
CAG repeats
calcification, intracranial
Canavan's disease
canned food
carbamazepine
carcinoembryonic antigen
carcinoma
carcinoma of breast
cardiac surgery, hypothermia and circulatory arrest for
cardiac surgery, neurologic complications with
cardiomyopathy
carnitine deficiency
carnitine deficiency myopathy
CAT scan
CAT scan, abnormal
CAT scan, angiography
CAT scan, chest
CAT scan, emission, abnormal
cataplexy
cataracts
cataracts, congenital
cauda equina, enhancement
caudate nucleus, atrophy
celiac disease, childhood
central core disease
central hypoventilation, congenital
central nervous system, infection of
cerebellar ataxia, autosomal recessive
cerebellar ataxia, children
cerebellar ataxia, hereditary
cerebellar atrophy, primary
cerebellar atrophy, secondary
cerebellar degeneration
cerebellar disease, eye movement disorder in
cerebellar hypoplasia
cerebellar vermis
cerebral cortical atrophy
cerebral embolism
cerebral infarction
cerebral palsy
cerebral palsy, associated problems with
cerebral vasculature
cerebral venous thrombosis
cerebro hepato renal syndrome
cerebrospinal fluid
cerebrospinal fluid, abnormal
cerebrospinal fluid, elevated protein of
cerebrospinal fluid, glycine
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
ceruloplasmin, serum
cervical spine injury
chelation therapy
cherry red spot
chest x-ray, abnormal
chilbran skin lesions
child abuse
children
chorea
chorea, Sydenham's
chorea, Sydenham's, recurrent
chorea, treatment of
choreoathetosis
chorioamnionitis
chorioretinitis
chromosomal abnormality
chromosome 1
chromosome 11
chromosome 15
chromosome 3
chromosome 5
chromosome 6
chronic progressive external ophthalmoplegia
cirrhosis
cirrhosis, infancy
Clinical Pathologic Conference(C.P.C.)
clubfoot as related to neurologic disease
cobalamin C deficiency
Coffin-Siris syndrome
cognition
cognitive delay
cogwheel rigidty
cold hands sign
cold intolerance
collagen vascular disease
colpocephaly
coma
complications
conduction block
confusion
congenital heart disease
congenital heart disease, CNS complications with
congenital infection, CNS
congenital infection, viral
congenital malformation
congenital myopathy
congenital myopathy, inflammatory
congestive heart failure
conjunctivitis
consanguinity
constipation
contactin associated protein like 2 antibodies
contractures, joint
conversion reaction
cornea, abnormal
cornea, opacification in infancy-causes of
cornea, opacity of
corpus callosum
corpus callosum, atrophy of
corpus callosum, lesion of
corpus callosum, thinning
cortical blindness
cranial nerve enhancement
cranial neuropathy
cranial neuropathy, multiple
C-reactive protein
C-reactive protein, elevated
creatine phosphokinase(CPK)elevated
cry, abnormal
cry, weak
crying
crying, pathologic
cryptorchidism
cultured skin fibroblasts
cyanosis
cyst
cyst, parenchymal
cystinosis
cytochrome c oxidase
cytochrome c oxidase, deficiency
cytomegalic inclusion disease
cytomegalovirus infection
cytomegalovirus infection, congenital
Dandy Walker malformation
dantrolene sodium
deep gray nuclei
degenerative diseases of CNS
delay in diagnosis
delayed dentition
delayed muscle relaxation
delivery, complicated
dementia
dementia, childhood
dentate nuclei
dentate nuclei, lesion of
dentatorubral-pallidoluysian atrophy
depression
dermatitis
descending paralysis
developmental abnormality of brain
developmental disability
developmental evaluation
developmental milestones
developmental milestones, loss of
developmental retardation
diabetes mellitus
diagnostic criteria
diarrhea
diet
differential diagnosis
digits, abnormal
dilantin
diphtheria-tetanus-pertussis immunization
diplopia
disability, neurological
dislocated hip, congenital
distal muscle atrophy
distal muscle weakness
disulfiram
DNA sequencing
drooling
droperidol
dropped head syndrome
drug overdose
dural sinus thrombosis
dysarthria
dysdiadochokinesia
DYSF gene
dysferlin
dysferlinopathy
dysmetria
dysmorphic
dysostosis multiplex
dysphagia
dyspnea
dystonia
dystonia, children
eating disorder
echocardiogram
edema, pedal
efficacy
electrocardiogram, abnormal
electroencephalogram
electroencephalogram, abnormalities of
electromyogram
electron microscopy
embolism, paradoxical
emergencies, neurologic
emotional lability
encephalitis
encephalomyelitis
encephalopathy
encephalopathy, acute
encephalopathy, anoxic
encephalopathy, neonatal
enzyme treatment
enzyme, defect
epidemiology of neurology
epileptic encephalopathy
evoked potentials
exome sequencing
eye movement, disorders of
facial anomalies
facial appearance, abnormal
facial nerve palsy, bilateral
facial weakness
facial weakness, bilateral
failure to thrive
falling
familial
FARS2 deficiency
fasciculation
fatigue
fatty acid, elevated plasma content
feeding disorder
fetal alcohol syndrome
fetal movements, reduced
fetus
fever
fibrillations
fine motor function, impaired
fingernails, abnormal
fingernails, hypoplastic
floppy infant
foam cells
food poisoning
food-borne infection
foot drop
Friedreich's ataxia
fucosidosis
fundus, abnormality of
gag reflex, depressed
gait disorder
gait, apraxic
gait, waddling
galactosemia
gammaglobulin therapy, intravenous
gangliosidosis GM1
gangliosidosis GM2
gastrocnemius muscle weakness
gene
gene mutation
gene therapy
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
genital hypoplasia
globus pallidus, hemorrhage
globus pallidus, lesion of
globus pallidus, lesion of, bilateral
GLUT1
GLUT1 deficiency syndrome
glutamic acid decarboxylase, antibody
gluten-free diet
glycine
glycogen storage disease
glycoprotein
growth hormone deficiency
growth retardation
guanidine
Guillain Barre syndrome
hallucination
hand clapping
hand deformity
hand flapping
hand wringing
head bobbing
head circumference
head lag
headache
headache, bifrontal
headache, positional
health insurance
hearing loss
hemiplegia
hemorrhagic diathesis
hepatolenticular degeneration(Wilson's disease)
hepatomegaly
hepatosplenomegaly
heterotopia
hexosaminidase-A
high arched feet
hip pain
Hirschprung's disease
histochemistry
histochemistry of muscle
homocystinuria
honey
Horner's syndrome
Horner's syndrome, bilateral
Horner's syndrome, congenital
human genome
Hunter's syndrome
Huntington's chorea
Huntington's disease, children
hydrocephalus
hydrocephalus, communicating
hydrocephalus, congenital
hydrocephalus, exvacuo
hydroxyglutaric aciduria
hyperbilirubinemia
hypercapnia
hyperglycinemia
hyperhidrosis
hyperhomocysteinemia
hyperphagia
hyperpyrexia, CNS disorder causing
hyperreflexia
hypersomnia
hypertelorism
hypertension
hypertonia
hypertrichosis
hypertrophic cardiomyopathy
hypodontia
hypogammaglobulinemia
hypoglycorrhachia
hypogonadism
hypomelanosis of Ito
hypomyelination
hypopigmentation of skin
hyporeflexia
hypothermia
hypotonia
hypotonia, infants
hypoxia
hypoxic encephalopathy
iatrogenic neurologic disorders
imbalance
immunization, neurologic complications with
immunodeficiency
immunomodulation
immunosuppression
immunosuppressive agents
inability to stand on tiptoes
inappropriate antidiuretic(A.D.H.)hormone
inborn errors of metabolism
inclusion bodies
inclusion bodies, intracytopasmic
incoordination
infant, evaluation of
infantile hemiplegia
infantile neuronal degeneration
infection
infection, recurrent
insomnia
intellectual deficit
intellectual deterioration
interferon alpha
intestinal biopsy
intrauterine
intrauterine infection
intrauterine infection, viral
intrauterine infection, viral of CNS
intubation
irritability
irritable baby
Isaacs syndrome
islet cell tumor
jaundice
Jewish
jittery baby
joint hypermobility
karyotyping
keratoconjunctivitis
Kernig's sign
ketogenic diet
kyphoscoliosis, neurologic causes of
leg spasms
leg spasms, painful
leg stiffness
leg weakness, bilateral
Leigh's disease
lens, dislocation of
lethargy
leukemia
leukodystrophy
leukoencephalopathy
leukoencephalopathy, differential diagnosis
leukotrienes
lid closure, weakness of
lipid storage disorder of CNS
lissencephaly
listeria monocytogenes
liver biopsy
liver disease
liver function enzymes
lordosis
Lowe's syndrome
lumbar puncture
lymphadenopathy
lymphoma
lysosomal storage disease
lysosomes, abnoral
macrocephaly
malabsorption
malaise
malformation, CNS, congenital
malignant hyperpyrexia
masked facies
meclizine
mediastinum, mass of
memory, impairment of
meningismus
meningitis, CSF cell count-normal
mental retardation
merosin
metabolic acidosis
metabolic disorder, primary
metabolic disorder, primary-screening tests
methylene tetrahydrofolate reductase
methylenetetrahydrofolate reductase deficiency
methylmalonic acidemia
microcephaly
micrognathia
micropolygyria
micropthalmia
Middle east
migraine, seizures in
mimics
misdiagnosis
mitochondrial disease
mitral valve prolapse
mobility
mobility aids
molecular genetics
mood change
mortality
Morvan's fibrillary chorea
motor neuron disease
movement disorder
movement disorder, extrapyramidal
MRI
MRI, abnormal
MRI, angiography
MRI, contrast enhanced
MRI, high signal foci on
MRI, hypointense signal foci on
MRI, muscle
MRI, negative
MRI, spinal cord
MRI, spine
MRI, susceptibility weighted
mucopolysaccharidoses
mucopolysacchariduria
multicore myopathy
multiminicore disease
multiple sclerosis
multiple sclerosis, diet in
multiple sclerosis, treatment of
multiple system atrophy
muscle atrophy, progressive
muscle atrophy, static
muscle biopsy
muscle cramp
muscle pain
muscle spasm
muscle stiffness
muscle tenderness
muscle twitching
muscle wasting, diffuse
muscle weakness
muscle weakness, proximal
muscle weakness, sudden onset of
muscle-eye-brain disease
muscular dystrophy
muscular dystrophy, cardiovascular changes with
muscular dystrophy, central nervous system abnormality
muscular dystrophy, classification
muscular dystrophy, congenital
muscular dystrophy, congenital, Fukuyama type
muscular dystrophy, differential diagnosis of
muscular dystrophy, distal, Miyoshi
muscular dystrophy, limb-girdle
myasthenia gravis
myasthenia gravis, neonatal
myasthenic syndrome
myasthenic syndrome, treatment of
myelitis
myelomalacia
myocarditis
myoclonic jerks
myoclonus
myokymia
myopathy
myopathy, centronuclear
myopathy, mitochondrial
myopathy, necrotizing
myopia
myositis
myotonia congenita
myotonia dystrophica
narcolepsy
nasal bridge, wide
nausea and vomiting
neck pain
neck stiffness
neck weakness
neck, webbed
neonatal infection, viral
nerve conduction studies
nerve conduction studies, motor
nerve root enhancement
neuroaxonal dystrophy
neuroaxonal dystrophy, infantile
neurocutaneous disease
neuroendocrinology
neurologic disease, diagnoses of
neurologic disease, multifocal
neurologic evaluation
neurologic examination
neurologic signs
neuromuscular blockade
neuromuscular disease, electrodiagnosis of
neuromuscular junction, abnormality of
neuromyotonia
neuromyotonia and axonal neuropathy
neuronal ceroid-lipofuscinosis
neuronal migration disorder
neuroophthalmology
neuropathology
neuropathology, brain
neuropathy
neuropathy, motor
neuropathy, motor, multifocal
neuropathy, peripheral
neurophysiology
neurosyphilis
neurotoxic
neurotoxicity, acute
neurotoxin
neurotransmitter
newborn, evaluation of
next-generation sequencing
Niemann-Pick disease
night sweats
Noonan Syndrome
nusinersen
nystagmus
nystagmus, periodic
obesity
obstetric neurologic injuries
ocular motility, disorders of
ocular myopathy
oculogyric crisis
odynophagia
old age, neurology of
ophthalmoplegia
ophthalmoplegia, plus syndrome
ophthalmoplegia, progressive external
optic atrophy
optic atrophy, infants
optic nerve
optic nerve, hypoplasia of
optic neuropathy
optic neuropathy, ischemic
optic neuropathy, ischemic, anterior
osteopetrosis
pachygyria
pain
pain, head
pallor
paraparesis, familial spastic
paraparesis, spastic
paraspinal muscle weakness
parenteral alimentation
paresthesias
Parkinson disease
Parkinsonism syndrome
pathology
patient information and support
pectus excavatum
pediatric neurology
periventricular leukomalacia
peroxisomal disease
peroxisomes
personality change
pertussis immunization
petechiae
phenylketonuria, variant form of
photophobia
physical therapy
placenta
placenta, infection of
placenta, thrombosis of
pleocytosis of cerebrospinal fluid
pneumoencephalogram(PEG)
poison, neurologic problems with
poliomyelitis
poliomyelitis vaccine
POLR3B
polycystic kidneys
polyhydramnios
polymerase chain reaction
polymicrogyria
polymyalgia rheumatica
polymyositis
polymyositis, infantile
polyneuropathy, chronic inflammatory demyelinating
polysomnogram
Pompe's disease of glycogen storage
pons, atrophy
pontocerebellar atrophy
postoperative neurologic complications
postpartum
postural abnormality
practice guidelines
Prader-Labhart-Willi syndrome
pregnancy, neurologic complications in
premature infant
prenatal
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
progeria
prognosis
progressive neurologic disorder
pruritus
psychiatric problems in neurologic disorders
psychomotor retardation
ptosis
ptosis, bilateral
pulmonary stenosis
pyramidal tract dysfunction
pyruvate dehydrogenase deficiency
pyruvate metabolism, abnormality of
quadriparesis
quadriparesis, acute
quadriplegia
radiation hypersensitivity
radiculitis
ragged-red fibers
rapidly progressing neurologic illness
rash
Refsum's disease
remote effect of cancer on the nervous system
renal failure
renal tubular acidosis
repetitive nerve stimulation
respirations in CNS disease
respirator
respiratory arrest
respiratory failure
retinal degeneration
retinal dysplasia
Rett's syndrome
review article
RFLPs
rheumatic fever
riboflavin transporter deficiency
rickets
rigid spine syndrome
rigidity
rippling muscle disease
risus sardonicus
rubella vaccine
saccadic eye movements, abnormal
Schmidt syndrome
scoliosis
scoliosis, neurologic association with
scooters
screaming
screening
sedimentation rate
sedimentation rate, elevated
segmental demyelination
seizure
seizure, children
seizure, focal
seizure, injury following
seizure, neonatal
self-mutilation
semialdehyde dehydrogenase deficiency
sensorineural hearing loss
serum alanine aminotransferase
short stature
shoulder, pain in
sinemet
skin, biopsy
skin, lesions in neurologic disorders
skull x-ray, abnormal
sleep
sleep pathology and physiology
small for dates infant, problems in
SMN1 gene
sodium valproate
sodium valproate, toxicity
spastic diplegia
spasticity
speech disorder
speech disorder, childhood
speech, delayed development of
speech, slowed
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
spinocerebellar ataxia
splenomegaly
spongy degeneration of brain
staggering
standing difficulty
startle reaction
stereotyped behavior
stereotypy
steroid
steroid therapy, CNS treatment and complications with
stiff legs
stiff limb syndrome
stiff man syndrome
stillbirth
strabismus
streptococcal infection
subdural effusion
suck, poor
sudden death
sulfite oxidase deficiency
superior sagittal sinus thrombosis
sweating
sweating, abnormality of
symmetric brain lesions
syphilis, neurologic complications with
tachycardia
tandem gait, ataxic
Tay-Sachs disease
teeth, abnormal
teeth, number of in infants
telangiectases
temper tantrums
temporal artery, biopsy
temporal artery, tender
temporalis muscle wasting
tenderness
teratogenesis
term infant
tetrahydrobiopterin
thalamus, lesion of
thalamus, lesion of-bilateral
thiamine deficiency
thrombocytopenia
thymoma
tinnitus
titubation
toe walking
tone, muscle
tone, muscle, increased
tongue, enlarged
tongue, fasciculations of
tongue, protrusion of
tongue, weakness
tonic spasms
toxic encephalopathy
toxins, nervous system
toxoplasmosis, CNS
tracheostomy
transient loss of muscle tone
transient neurologic deficit
transilumination of skull
treatment of neurologic disorder
tremor
tremor, cerebellar
tremor, intention
tremulousness
trichopoliodystrophy
trinucleotide repeats
tuberculosis
ultrasonography
ultrasonography, head
ultrasonography, head, fetus-neonate
uric acid, low
urinalysis, abnormal
urinary incontinence
urine test for metabolic disorders
urine, dark
vaccination, neurologic complications with
vaccine
valium
valvulopathy
vasculopathy
vegetarianism
vein of Galen
vertigo
vertigo, cervical
vertigo, treatment of
viral infection, CNS
vision, failure of in childhood
visual evoked response
visual impairment
visual loss
visual tracking
vitamin deficiency
vitamin E deficiency
vomiting, recurrent
Walker-Warburg syndrome
walking frame
walking, difficulty with
weakness
weakness, acute
weakness, congenital
weakness, generalized
weakness, infant
weakness, progressive
weakness, proximal
weight loss
Werdnig-Hoffman disease
wheelchair
white matter disease
wide based gait
workup
wrist drop
x-linked mental retardation
Showing articles 0 to 50 of 6082 Next >>

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

A Young Woman with Rapidly Progressive Weakness and Paresthesia
Neurol 101:676-681, Alwakeel,S.S.,et al, 2023

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

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

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

A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021

A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020

Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020

Sydenham Chorea
www.UptoDate.com, Oct, Gilbert, D.L., 2019

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018

Wilson Disease
NIDDK Oct2018, , 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Morvan Syndrome as a Paraneoplastic Disorder of Thymoma with Anti-CASPR2 antibodies
Lancet 389:1367-1368, Vale, T.C.,et al, 2017

A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017

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

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

Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, 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

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, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

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, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, 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

Giant-Cell Arteritis and Polymyalgia Rheumatica
NEJM 371:50-57, Weyand, C.M. & Goronzy J.J., 2014

Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013

Polymyalgia Rheumatica
Lancet 381:63-72, Kermani, T. & Washington, K., 2013

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010

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

Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

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

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Polymyalgia Rheumatica
BMJ 336:765-769, Michet,C.J. &Matteson,E.L., 2008

Polymyalgia Rheumatica and Giant-Cell Arteritis
Lancet 372:234-245, Salvarani,C.,et al., 2008

Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

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

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004



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