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Differential
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acanthocytosis
adult polyglucosan body disease
adult-onset leukodystrophy, with neuroaxonal spheroids
alternating hemiplegia
alternating hemiplegia of childhood
amimia
ammonia
amyloid angiopathy, cerebral
amyloid angiopathy, cerebral, Dutch type
anterior tibial muscle weakness
antiviral agents
aphasia
areflexia
arthrogryposis multiplex
ataxia
ataxia, cerebellar
ataxia, progressive
ataxic gait
ataxic-dystonia syndromes
ATP1A3 gene
attention deficit disorder with hyperactivity
atypical
autonomic dysfunction
Babinski sign
basal ganglia, lesion, bilateral
behavioral disorder
beta-D-glucon
bladder dysfunction
brain atrophy
brain biopsy
brainstem, atrophy
bronchoscopy
bulbar palsy
calcification, gyral
calcification, intracranial
candida albicans
cardiomyopathy
CAT scan, abnormal
CAT scan, emission, abnormal
catalepsy
cataplexy
cerebellar ataxia, children
cerebellar atrophy, primary
cerebellar atrophy, secondary
cerebellar degeneration
cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy
cerebral cortex
cerebral cortical atrophy
cerebral palsy
cerebral palsy, etiology
cerebral palsy, work up
cerebrospinal fluid, beta-D-glucan
cerebrospinal fluid, lactic acid concentration
cerebrospinal fluid, proteincytologic dissociation
cerebrovascular accident
cerebrovascular accident, cryptogenic
cerebrovascular accident, nonvascular territory
cerebrovascular accident, young adult
chest x-ray, abnormal
children
chorea
choreoathetosis
chromosomal abnormality
cingulate gyrus
Clinical Pathologic Conference(C.P.C.)
clonus
clubfoot as related to neurologic disease
Coats plus
cobalamin C deficiency
coma
coma, sudden onset
complications
confusion
congenital myasthenic syndromes
consanguinity
corpus callosum
corpus callosum, hypoplastic
corpus callosum, lesion of
corpus callosum, thinning
cortical ribbon sign
cranial nerve enhancement
creatine phosphokinase(CPK)elevated
cyst
cyst, benign intracranial
cyst, cortical parenchyma
cyst, parenchymal
deafness
delay in diagnosis
dementia
dementia, presenile
developmental disability
developmental retardation
diabetes mellitus
diagnostic criteria
diet
differential diagnosis
difficulty climbing stairs
difficulty going down stairs
disease modifying agents
distal muscle atrophy
distal muscle weakness
DNA sequencing
double-cortex syndrome
dysarthria
dysmetria
dysmorphic
dysphagia
dystonia
electromyogram
encephalopathy
encephalopathy, acute
eosinophilia
executive dysfunction
exome sequencing
Fabry's disease
facial appearance, abnormal
facial weakness
falling
false negative
familial
fatal familial insomnia
fatigue
feeding disorder
fever
fish
floppy infant
fourth ventricle, compression
fungal infection
fungal infection, CNS
gait disorder
gait speed
gait, spastic
GAMT gene
gaze palsy, supranuclear
gaze palsy, vertical
gene
gene mutation
genetic counselling
genetic neurologic disorders
genetic screening
genetic testing
globus pallidus, lesion of, bilateral
gram positive cocci
gray hair
hammertoes
headache
headache, awakening with
headache, positional
headache, progressive
hearing loss
helminthic infection of CNS
hemianopia, homonymous
hemiparesis, transient
hemophagocytic lymphohistiocytosis
hepatomegaly
hepatosplenomegaly
heterotopia
HHH syndrome
high arched feet
high arched palate
human genome
hydrocephalus
hydrocephalus, non-communicating(obstructive)
hyperammonemic encephalopathy
hyperhomocysteinemia
hyperreflexia
hypoglycorrhachia
hypogonadism
hypogonadism, hypogonadotropic
hyporeflexia
hypotonia
hypotonia, causes of
hypotonia, infants
imbalance
immunotherapy
inborn errors of metabolism
inclusion bodies, intranuclear
incoordination
India
infection
insomnia
insular cortex
insular cortex, lesion
intellectual deficit
interstitial pulmonary fibrosis
intracerebral hemorrhage
intravenous drug abuse
intrinsic hand muscles, wasting of
jaundice
Jewish
Krabbe's disease
lactic acidemia
Leber's hereditary optic neuropathy
leg weakness, bilateral
leukodystrophy
leukoencephalopathy
leukoencephalopathy with calcification and cysts
level of consciousness, decreased
lid
lid abnormalities
life expectancy
linear lesion
lipid storage disorder of CNS
lung nodule
lung-brain syndromes
lysosomal storage disease
malformation, CNS, congenital
McLeod syndrome
megalencephaly
MELAS syndrome
memory, impairment of
meningeal enhancement
meningeal sarcomatosis
meningitis
meningitis, basilar
meningitis, candida
meningitis, chronic
meningitis, fungal
meningitis, neutrophilic
mental retardation
mestinon
metabolic acidosis
methylmalonic acidemia
microcephaly
microhemorrhage, intracerebral
middle cerebellar peduncle
middle cerebellar peduncle, lesion
middle cerebellar peduncle, lesion, bilateral
miglustat
mimics
mineralization
misdiagnosis
mitochondrial disease
mitochondrial encephalomyopathy
molecular genetics
movement disorder
moyamoya
moyamoya, adult
MRI, abnormal
MRI, blooming effect
MRI, contrast enhanced
MRI, diffusion weighted
MRI, mass effect on
MRI, muscle
MRI, negative
MRI, nodular enhancement
MRI, spinal cord
muscle biopsy
muscle weakness, proximal
mutism
myelomalacia
myeloneuropathy
myelopathy
myoclonus
myopathy
nasal speech
nausea and vomiting
needle tracks
neonatal intensive care unit
neonatal screening, genetic neurologic disorders
neurologic complications of, systemic disease
neurologic disease
neurologic disease, diagnoses of
neuronal intranuclear inclusion disease
neuroophthalmology
neuropathy
neuropathy, demyelinating
newborn, evaluation of
next-generation sequencing
Niemann-Pick disease
night blindness
normal
NOTCH2NLC
nystagmus
occipital lobe
ocular motility, disorders of
opened mouth
ophthalmoplegia
organomegaly
ornithine transcarbamylase deficiency
ovarian dysgenesis
pachygyria
papilledema
paragonimiasis
paraparesis, familial spastic
paraparesis, spastic
parasitic infection, CNS
Parkinsonism syndrome
paroxysmal neurologic deficits
peripheral blood smear
Perrault syndrome
pes cavus
philtrum, tented
phonophobia
photophobia
PICU
pleocytosis of cerebrospinal fluid
pleocytosis of cerebrospinal fluid, neutrophilic
polyglucosan body disease
polymicrogyria
pons, lesion of
precipitating factors
prion disease
prognosis
progressive neurologic disorder
psychiatric problems in neurologic disorders
psychological testing
psychomotor retardation
psychosis
psychotic behavior
ptosis
ptosis, bilateral
pyramidal tract
pyramidal tract dysfunction
pyruvate dehydrogenase deficiency
pyruvate metabolism, abnormality of
quadriplegia
ragged-red fibers
recurrent
ReNU syndrome
respiratory tract infection
retinopathy
review article
risk factors
Romberg's sign
salivation, excessive
schizophrenia
scissors gait
scotoma
screening
sedimentation rate, elevated
seizure
seizure, focal
seizure, laughing as manifestation
sensorineural hearing loss
short stature
shunt procedure, ventricular
shunt procedure, ventricular-complications of
sleep pathology and physiology
small vessel disease
spastic ataxia
spastic paraplegia, type 7
spasticity
speech disorder
speech, absence of
spinal cord, lesion of
spinocerebellar ataxia
spinocerebellar ataxia type 28
spinocerebellar degeneration
splenomegaly
strokelike episodes
symmetric brain lesions
systemic illness
tandem gait, ataxic
telangiectases, retinal
temporal lobe, lesion
temporal lobe, lesion, bilateral
thalamus, lesion of-bilateral
tinnitus
toe walking
treatment of neurologic disorder
tremor
tremor, intention
trinucleotide repeats
tripping
tumefactive lesion
urea-cycle enzymopathies
urinary urgency
vasculitides
vasculopathy
vegetarianism
vestibular migraine
vision loss, sequential
vision, blurred
visual loss
visual loss, transient
visual obscurations, transient
visuospatial disturbance
walking, delayed
walking, difficulty with
weakness
weakness, fatiguable
weakness, progressive
weakness, proximal
weight loss
wheelchair
white matter disease
white matter disease, unilateral
whole genome sequencing
wide based gait
workup
x-linked intellectual deficit
x-linked mental retardation
Showing articles 0 to 50 of 305 Next >>

Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025

A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025

Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025

A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025

A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
Neurol 105:e214299, Gutierrez-Abizuri,C.,et al, 2025

A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025

Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
Neurol 106:e214464, Chen,Y.,et al, 2025

A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025

A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

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

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024

Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022

A 31-Year-Old Man with Sequential Vision Loss
Neurol 98:163-169, Fortes, B.,et al, 2022

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

Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
Mal Genet Genomic Med 10:e1955, Seed,L.M.,et al, 2022

Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022

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

A 13-Year-Old Boy with Subacute-Onset Spastic Gait
JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018

Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017

A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016

Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014

Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012

Clinical Study of Nine Patients with ReNU Syndrome
, Okamoto,N.,et al,

A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025

Tiger Man Sign in Sarcoid Myopathy
Neurol 105:e214323, Sun,Q.,et al, 2025

A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
Neurol 105:e214429, Trentadue,T.,et al, 2025

A 59-Year-Old Man with Progressive Dysarthria and Gait Instability
Neurol 104:e213729, Shen,D.,et al, 2025

Multiple Contrast Enhancing Subdural Lesions
BMJ 387:e079362, Liu,J. & Sun,Z., 2024

A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024

Tau Positron Emission Tomography for Predicting Dementia in Individuals with Mild Cognitive Impairment
JAMA Neurol 81:845-856, Groot,C.,et al, 2024

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023

Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023

An 80-Year-Old Woman with a Homonymous Hemianopsia
Neurol 99:713-717, Tajfirouz, D.,et al, 2022

Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022

FDG-PET/CT of Giant Cell Arteritis with Normal Inflammatory Markers
Ann Neurol 92:337-339, Koizumi, N.,et al, 2022

MR Three-Territory Sign in Cancer-Associated Hypercoagulation Stroke (Trousseau Syndrome)
Neurologist 27:37-40, Finelli, P.F., 2022



Showing articles 0 to 50 of 305 Next >>