Neudle.com: "neonatal screening genetic neurologic disorders"

Differential
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abdominal protrusion

abscess, intracerebral

acetylcholinesterase deficiency

acid maltase deficiency

acromicria

activated protein C resistance

acyl CoA dehydrogenase deficiency

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

agenesis of corpus callosum

alveolar hypoventilation

Alzheimer's disease

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, preclinical

Alzheimer's disease, risk factors in

Alzheimer's disease, visual variant

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, differential diagnosis

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, misdiagnosis

anemia

anesthesia, general

aneurysm

aneurysm, intracranial

aneurysm, intracranial, familial

angiofibroma, facial

angiography, cerebral

angiomyolipomas

ankle reflex, absent

anterior horn cell disease

antibiotic prophylaxis

antibiotics

antibiotics, neurologic complications with

anticonvulsants

anticonvulsants, blood level determination of

anticonvulsants, effectiveness

anticonvulsants, selection of

anticonvulsants, teratogenicity of

antiphospholipid antibodies

anxiety

aphasia

aphasia, progressive, primary

aphasia, transcortical

aphasia, transcortical-sensory

apolipoprotein E

APP gene

apraxia

apraxia, constructional

arteriovenous malformation

arteriovenous malformation, cerebral

arteriovenous malformation, multiple

arteriovenous malformation, pulmonary

ataxia telangiectasia

atrioventricular block

attention deficit disorder with hyperactivity

atypical

autism

autism, screening for

autistic behavior

autoimmune disease

automobile accidents

autonomic dysfunction

autonomic nervous system

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basilar impression

behavior, combative

behavioral disorder

benign familial neonatal convulsions

biologic markers

biotin deficiency

biotinidase deficiency

bleeding disorder

blindness

blood dyscrasias, neurologic findings with

body odor

bone biopsy

bone marrow transplantation

brachial neuritis, acute

brachial neuritis, bilateral

brachial plexus neuropathy

brachial plexus neuropathy, bilateral

brachial plexus neuropathy, familial

brachial plexus neuropathy, recurrent

bradyphrenia

brain atrophy

brain biopsy

brain biopsy, negative

brain biopsy, stereotaxic

brain purpura

brainstem, infarction of

burst suppression pattern, electroencephalogram

cachexia

CAG repeats

calcification, gyral

calcification, intracranial

cardiac surgery, hypothermia and circulatory arrest for

cardiac surgery, neurologic complications with

cardiomyopathy

caribbean

carotid artery occlusion, bilateral

CAT scan, emission, abnormal

cataracts

catecholamine

caudate nucleus, atrophy

cavernous hemangioma

Central America

central nervous system, infection of

cerebellar ataxia, autosomal recessive

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar lesion

cerebellum, disease of

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortex

cerebral cortical atrophy

cerebral embolism

cerebral embolism, carotid origin

cerebral infarction

cerebral infarction, hemorrhagic

cerebral infarction, subcortical

cerebral palsy

cerebral palsy, etiology

cerebral palsy, risk factors

cerebral palsy, work up

cerebral peduncle

cerebral vasculature

cerebral venous infarction

cerebral venous thrombosis

cerebro hepato renal syndrome

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, enzymes in

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, proteincytologic dissociation

cerebrospinal fluid, red cells in

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, cardiac disease causing

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, intrauterine

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, neonatal

cerebrovascular accident, nonvascular territory

cerebrovascular accident, recurrent

cerebrovascular accident, work up for

cerebrovascular accident, young adult

cerebrovascular disease

cerebrovascular disease, surgical treatment of

cherry red spot-myoclonus syndrome

chest x-ray, abnormal

choroid plexus, abnormality of

choroid plexus, cyst

chromosomal abnormality

cingulate island sign

cleft lip

Clinical Pathologic Conference(C.P.C.)

clonus

clopidogrel

clubbing of fingers

clubfoot as related to neurologic disease

coagulopathy

coat-hanger pain

cobalamin C deficiency

collagen vascular disease

color vision

color vision, impaired

congenital birth defects

congenital heart disease

congenital heart disease, CNS complications with

congenital infection, viral

congenital malformation

congenital malformation, non CNS

congenital myasthenic syndromes

controversies in neurology

copper deficiency

cornea, abnormal

corpus callosum

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cortical blindness, transient

cost effectiveness

counselling

C-reactive protein, elevated

creatine phosphokinase(CPK)elevated

Cree leukoencephalopathy

Creutzfeldt-Jakob disease, genetic

cry, abnormal

cryptorchidism

Cuba

cultured skin fibroblasts

cyanosis

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

cyst, parenchymal

cyst, porencephalic

cystinuria

cytomegalovirus infection

degenerative diseases of CNS

Dejerine-Sottas syndrome

dementia, age at onset

dementia, childhood

dementia, familial

dementia, frontal lobe type

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, subcortical

demyelinating disease

dental procedure, neurologic complications with

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

descending paralysis

developmental disability

developmental evaluation

developmental milestones

developmental milestones, loss of

developmental retardation

differential diagnosis

difficulty climbing stairs

disability, neurological

disorientation

distal muscle weakness

diurnal variation

dizziness

DNA probes

dopa responsive dystonia

down-beat nystagmus

Dravet syndrome

dropped head syndrome

drug abuse

drug interactions

dural sinus thrombosis

dystonia, etiology of

dystonia, painful

dystrophin

ear, abnormal

ears of the Lynx MR sign

echocardiogram

eczema

Ehlers-Danlos syndrome

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

electroencephalogram, inflammatory disease

electroencephalogram, monitoring, continuous

electroencephalogram, periodic complexes

electroencephalogram, video monitoring with

electromyogram

electron microscopy

electrophoretic pattern, serum

electroretinograph

embolism, paradoxical

Embryonal tumors

Emery-Dreifuss muscular dystrophy

encephalopathy, anoxic

encephalopathy, metabolic

encephalopathy, neonatal

encephalopathy, progressive

endocarditis, prophylaxis

endolymphatic sac tumors

enzyme treatment

enzyme, defect

enzyme, induction

enzyme, muscle disease

ependymoma

epicanthal folds

epidemic

epidemiology of neurology

epileptic encephalopathy

episodic disorders

episodic neurologic deficits

evidence-based research

executive dysfunction

exercise intolerance

exome sequencing

extracorporeal membrane oxygenation

eye movement, disorders of

Fabry's disease

face, elongated

facial anomalies

facial appearance, abnormal

facial hypoplasia

facial nevus

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

fatty acid, elevated plasma content

fibrinolytic agents, contraindications

fibroma, ungual

fibromuscular dysplasia

fine motor function, impaired

finger nose finger test

finger tapping

fingers, abnormal

fistula, arterio-venous, pulmonary

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontal balding

frontal bossing

frontotemporal dementia, behavioral variant

fundus, abnormality of

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

GFAP gene

glaucoma

glioblastoma multiforme(astrocytoma Gr.III)

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose level, serum

glucose tolerance test, abnormal

GLUT1

GLUT1 deficiency syndrome

Guillain Barre syndrome

gynecomastia

gyrus, abnormal

Hallervorden Spatz disease

hallucination

hallucination, visual

hearing loss, bilateral

hearing loss, sudden, unilateral

hemangioma, leptomeningeal

hemangioma, skin

hemianopia

hemianopia, homonymous

hemianopia, transient

hemiparesis

hemiparesis, transient

hemiplegia

hemiplegia, congenital

hemoglobin abnormality, neurologic complications of

hemorrhage, intracranial, newborn

hemorrhage, periventricular

hemorrhagic diathesis

hepatic encephalopathy

hepatomegaly

hepatosplenomegaly

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

herniated disc, thoracic

human T-lymphotropic virus type I(HTLV-I)

huntingtin

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, late onset

Huntington's chorea, misdiagnosis of

Huntington's chorea, presymptomatic detection of

Huntington's chorea, sporadic form

Huntington's disease, children

hydrocephalus

hydrocephalus, congenital

hyperglycinemia, nonketotic

hyperhomocysteinemia

hyperpigmentation of skin

hypertrophic cardiomyopathy

hypodontia

hypogammaglobulinemia

hypoglycorrhachia

hypogonadism

hypomyelination

hypopigmentation of skin

hyporeflexia

hyposmia

hypotelorism

hypotension, neurologic causes of

hypothermia

hypothyroidism

hypothyroidism, congenital

hypoxic encephalopathy

hypoxic-ischemic leukoencephalopathy

imbalance

imbalance, postural

immunomodulation

implantable cardioverter defibrillator

impulsivity

inappropriate behavior

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, intracytopasmic

inclusion bodies, ubiquitin

inflexibility, mental

insulin resistance

intellectual deficit

intellectual deterioration

intelligence quotient

intelligence testing in children

internal capsule

internet

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracerebral hemorrhage, young adult

intracranial hemorrhage

intranasal medication

intrauterine

intrauterine growth retardation

intrauterine infection

intrauterine infection, viral

intrauterine infection, viral of CNS

intraventricular hemorrhage

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

klippel feil syndrome

Krabbe's disease

KRIT1 gene

kyphoscoliosis, neurologic causes of

learning disability, in children

Leber's hereditary optic neuropathy

leg spasms

leg spasms, painful

leg weakness, bilateral

leucine-rich repeat kinase 2 gene

leukocyte enzyme abnormality

leukocytosis

leukodystrophy

leukoencephalopathy

leukoencephalopathy with calcification and cysts

leukoencephalopathy, hereditary diffuse

level of consciousness, decreased

lid closure, weakness of

liver function enzymes

lysosomal storage disease

macrocephaly

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malformation, vascular, familial

masseter muscle weakness

meconium staining

medical-legal aspects of neurology

medulla oblongata

medulla oblongata, atrophy

medulla oblongata, lesion of

medulla oblongata, neoplasm of

medulloblastoma

melanomatosis, primary malignant

MELAS syndrome

memory, impairment of

meningeal enhancement

meningitis

meningitis, basilar

meningitis, CSF cell count-normal

meningitis, leptospira

meningocele

meningoencephalitis

mental retardation

mental retardation, familial

mental status, abnormal

MERRF syndrome

mesial temporal lobe

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

methylmalonic acidemia

Mexican

microangiopathy, brain

microcephaly

microdontia

microhemorrhage, intracerebral

microspherophakia

midbrain, lesion of

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

middle cerebral artery territory infarction

middle cerebral artery, occlusion of

mitochondrial disease

mitochondrial encephalomyopathy

mitral valve prolapse

molecular genetics

molybdenum cofactor deficiency

mongolism

monoclonal antibodies

movement disorder, extrapyramidal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, eye of tiger sign

MRI, false negative

MRI, gradient-echo

MRI, hypointense signal foci on

MRI, muscle

MRI, negative

MRI, optic nerve

MRI, paramagnetic effect

MRI, spinal cord, increased intramedullary cord signal

MRI, susceptibility weighted

MRS

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, misdiagnosis

muscle atrophy, focal

muscle atrophy, progressive

muscle biopsy

muscle cramp

muscle pain

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, classification

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, Duchenne, presymptomatic detection

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

mutism

myasthenia gravis

myasthenia gravis, congenital

myasthenia gravis, distal weakness

myasthenia gravis, familial incidence of

myasthenia gravis, infantile and juvenile

myasthenia gravis, limb-girdle

myasthenia gravis, misdiagnosis of

myasthenia gravis, neonatal

myasthenia gravis, seronegative

myasthenia gravis, treatment of

myasthenic syndrome

myelin protein zero gene

myelomalacia

myelomeningocele

myelopathy

myeloproliferative disorder

myoclonus, stimulus sensitive

myopathy, inclusion body

myopathy, inclusion body with Paget's disease

myopathy, mitochondrial

myotonia dystrophica, classification

myotonia dystrophica, type 2

neonatal epilepsy syndromes

neonatal epileptic encephalopathy

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, peripheral nerve

neoplasm, primary intracranial

neoplasm, primary of CNS

neoplasm, primary of CNS-children

neoplasm, primary of CNS-classification

neoplasm, primary of CNS-treatment of

nephritis

nerve conduction studies

nerve hypertrophy

nerve root enhancement

nerve root hypertrophy

neural tube defect

neuroaxonal leukodystrophy

neuroblastoma

neurocutaneous disease

neurodegeneration with brain iron accumulation

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic disease, tempo

neurologic evaluation

neurologic examination

neurologic examination, focal

neurologic practice

neurologic signs

neurologic testing

neuromuscular junction

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal migration disorder

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, classification of

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, work up for

newborn, evaluation of

next-generation sequencing

Notch3 gene, false negative

numbness, extremity

nusinersen

nystagmus

nystagmus, gaze-evoked

nystagmus, rotary

nystagmus, vertical

obsessive-compulsive disorder

occipital lobe, infarction

occipital lobe, lesion of

ocular motility, disorders of

oculodentodigital dysplasia

old age, neurology of

omeprazole

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic atrophy

optic chiasm, enlarged

optic disc edema

optic glioma

optic nerve, compression of

optic nerve, enhancement

optic nerve, enlarged

optic nerve, hypoplasia of

optic nerve, lesion of

optic neuritis

optic neuritis, bilateral

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

optical coherence tomography

oral contraceptives

ornithine transcarbamylase deficiency

orthostatic hypotension

osteogenesis imperfecta

osteoporosis

otosclerosis

pacemaker, cardiac-transvenous

pain, increased response

paraparesis, familial spastic

paraparesis, familial spastic, classification

paresthesias, lower extremity

Parkinson disease

Parkinson disease, atypical

Parkinson disease, familial

Parkinsonism syndrome

PAS positive

PAS positive material in the brain

past pointing

patient in waiting

patient information and support

pectus carinatum

pectus excavatum

percussion induced muscle contraction

peripheral nerve, lesion of

periventricular leukomalacia

platelet inhibiting drugs

pleocytosis of cerebrospinal fluid

POLG1 gene

POLR3B

polycythemia, primary

polyhydramnios

polymerase chain reaction

polymerase chain reaction, false negative

polymerase chain reaction, false positive

polyneuropathy

Pompe's disease of glycogen storage

pons, lesion of

port wine nevus

portal caval shunt

post hemorrhagic hydrocephalus

posterior cerebral artery territory infarction

posterior cortical atrophy

posterior fossa, lesion of

postoperative neurologic complications

postural abnormality

practice guidelines

precipitating factors

preclinical

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

premature infant

premature infant, problems in

prenatal diagnosis by amniocentesis

presenilin-1 gene

presenilin-2 gene

prethrombotic state

prevention of neurologic disorders

primary episodic ataxia

primary thrombocythemia

progressive myoclonic epilepsy

progressive neurologic disorder

prolactin, elevated

proprioception, abnormal

protein 14-3-3, cerebrospinal fluid

protein C deficiency

protein S deficiency

proteinuria

proton pump inhibitors

proximal muscle atrophy

proximal myotonic myopathy

pseudobulbar palsy

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

pulmonary hypertension

pulmonary stenosis

pupil

pupil, dilated and fixed, bilateral

pupil, dilated, bilateral

pupil, dilated, episodic

pyramidal tract

pyramidal tract dysfunction

pyridoxine

pyridoxine deficiency

pyruvate metabolism, abnormality of

quadriparesis

quality of life

ragged-red fibers

rapidly progressing neurologic illness

rash

reaction time

real-time quaking-induced conversion

respiratory tract infection

reversible neurologic disorder

review article

RFLPs

rhabdomyolysis

rhabdomyosarcoma of heart

rheumatoid arthritis

rheumatoid arthritis, neurologic complications of

rigidity

risk factors

risk-benefit assessment

saccadic eye movements, abnormal

scoliosis, neurologic association with

seizure, complications following

seizure, diagnosis of

seizure, drug resistance

seizure, drug-induced

seizure, injury following

seizure, intractable

seizure, neonatal

seizure, paradoxical

seizure, photosensitive

seizure, pregnancy

seizure, pyridoxine dependent

seizure, teenager

seizure, tonic-clonic

seizure, treatment of

seizure, workup of

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

shoulder-girdle wasting

single photon emission computed tomography

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

slit lamp examination

small vessel disease

SMN1 gene

SNCA duplication

sodium channel dysfunction

somnolence

South America

Southern immunoblot test

spastic ataxia

spastic diplegia

spastic paraplegia, type 11

spasticity

speech disorder

speech disorder, childhood

speech, delayed development of

speech, loss of

spinal cord, compression of

spinal cord, lesion of

spinal cord, neoplasm

spinal muscular atrophy

spinal muscular atrophy, classification

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 2

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 7

spinocerebellar degeneration

spirochete infection

spondylolysis

spontaneous remission

steroid therapy, CNS treatment and complications with

straight sinus

stress, emotional

striatonigral degeneration

striatonigral degeneration, infantile

strokelike episodes

Sturge-Weber syndrome

subarachnoid hemorrhage

sudden infant death syndrome

suicide

sulfite oxidase deficiency

superior sagittal sinus thrombosis

symmetric brain lesions

systemic lupus erythematosus

systemic lupus erythematosus, neurologic complications with

teeth, number of in infants

telangiectases

temporal lobe, atrophy

temporal lobe, lesion

temporal lobe, lesion, bilateral

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

testicular enlargement

tetrahydrobiopterin

thalamus, lesion of

thalamus, lesion of-bilateral

tissue plasminogen activator, intravenous

titubation

toe walking

tongue, biting

tongue, fasciculations of

topiramate

transient ischemic attack

transient neurologic deficit

travel, foreign

treatment of neurologic disorder

trinucleotide repeats

tuberous sclerosis, screening for

tumor suppressor gene

twins

tyrosine hydroxylase deficiency

ultrasonography

ultrasonography, head

ultrasonography, head, fetus-neonate

ultrasonography, nerve

unconsciousness

unconsciousness, transient

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

urea-cycle enzymopathies

uric acid, low

urinalysis, abnormal

urinary incontinence

urine test for metabolic disorders

venous thrombosis, non-cerebral

ventricular enlargement

ventricular garlands

vertigo

vibratory sensation, abnormal

violent behavior

viral infection

viral infection, CNS

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity, decreased

visual acuity, decreased, monocular

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, progressive

visual loss, slow

visuospatial disturbance

Von Hippel Lindau, screening protocol for

von Hippel-Lindau, screening

walking, difficulty with

weakness, generalized

weakness, progressive

whistle, inability to

white matter disease

white matter disease, subcortical

white matter disease, unilateral

wide based gait

winging of scapula

Wood's light

word-finding difficulty

workup

writing

X-linked bulbospinal neuronopathy

x-linked hydrocephalus

x-linked intellectual deficit

x-linked mental retardation

Zika virus infection

Showing articles 0 to 50 of 24795 Next >>

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Neuroimaging Features of Biotinidase Deficiency
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022

Spinal Muscular Atrophy
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Ann Neurol 91:889-890, Gollion, C.,et al, 2022

Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Brain Tumors in Children
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

Duchenne Muscular Dystrophy
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A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020

A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020

A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020

Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020

Long Survival Sporadic Creutzfeldt-Jakob Disease
Neurol 95:87-88, Liu, X.Y.,et al, 2020

Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020

Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020

A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020

Recurrent Cerebral Ischemia During Pregnancies
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A Teenager with Persistent Headache
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
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Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
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Congenital Myasthenic Syndromes in Adult Neurology Clinic
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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Huntington Disease: Clinical Features and Diagnosis
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