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Differential
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abdominal distention
abducens nerve paralysis
acanthocytosis
acetazolamide
acetylcholine
acoustic nerve
acoustic neurinoma, bilateral
Addison's disease
adrenomyeloneuropathy
advances in neurology
adverse drug reaction
aggression
agitation
Aicardi-Goutieres syndrome
akinetic mute
alcohol
alcohol intolerance
alcohol intoxication
alcohol, blood level of
alcohol, neurologic complications with
alcoholic blackout
alcoholic coma
alcoholic dementia
alcoholic polyneuropathy
alcoholic withdrawal states, DT's, convulsions, etc.
alcoholism
Alexanders disease
Alexanders disease, adult onset
algorithm
alkylating agents
alopecia
alpha-fetoprotein
altered states of consciousness
alternating rapid movement
alternating rapid movement, impaired
Alzheimer's disease
Alzheimer's disease, early onset
Alzheimer's disease, familial
amnesia
amyloid angiopathy, cerebral
amyloid plaques
amyotrophic lateral sclerosis
Angelman syndrome
angiography, spinal
aniridia
ankle reflex, absent
antibodies to voltage-gated calcium channels
anticholinesterase
anticonvulsants
anticonvulsants, effectiveness
antimetabolite
antioxidant
anxiety
aphasia
aphasia, progressive
apraxia
apraxia of eye movements
aqueduct of Sylvius, stenosis
aqueductal stenosis
areflexia
Arnold Chiari malformation
arrhythmia, cardiac
arterial dissection
arterial dissection, multiple
arterial dissection, recurrent
arterial dissection, renal artery
arterial dissection, ruptured
arterial dissection, vertebral
arteriopathy
asparginase
aspiration
asterixis
asymptomatic
ataxia
ataxia telangiectasia
ataxia, cerebellar
ataxia, congenital
ataxia, hereditary
ataxia, paroxysmal
ataxia, progressive
ataxia, sensory
ataxia, truncal
ataxic gait
ataxin
ataxin-2
atherosclerosis, premature
atonic bladder
ATP1A3 gene
attention span
atypical
auditory evoked brainstem potentials
autonomic dysfunction
autosomal rcessive spastic ataxia of Charlevoix-Saguenay
axonal spheroid
Babinski sign
baclofen
basal ganglia
basal ganglia, calcification of
basal ganglia, degeneration
basal ganglia, lesion of
basal ganglia, lesion, bilateral
Bassen-Kornzweig syndrome
behavior, combative
behavioral disorder
benign essential tremor
benign essential tremor, refractory
beta adrenergic blocker
biologic markers
bladder dysfunction
blindness
blood dyscrasias, neurologic findings with
bone marrow biopsy
brachycephaly
bradykinesia
brain atrophy
brainstem, atrophy
brainstem, hypoplasia
brainstem, lesion of
brainstem, malformation
brainstem, neoplasms of
brainstem, vascular malformation of
bruising
cachexia
CAG repeats
calcification, intracranial
calcification, intracranial, rim
calcium channel dysfunction
cane
carcinoembryonic antigen
carcinoma
carcinoma of pancreas
cardiomyopathy
CAT scan
CAT scan, abdomen
CAT scan, abnormal
CAT scan, contrast enhanced
CAT scan, emission
CAT scan, emission, abnormal
cataracts
cataracts, congenital
cavernous hemangioma
celiac disease, adult
central core disease
central pontine myelinolysis
cerebellar ataxia, autosomal recessive
cerebellar ataxia, children
cerebellar ataxia, children, differential diagnosis of
cerebellar ataxia, hereditary
cerebellar ataxia, neuropathy and vestibular areflexia syndrome
cerebellar ataxia, primary
cerebellar atrophy, primary
cerebellar atrophy, secondary
cerebellar degeneration
cerebellar hemangioma
cerebellar hemorrhage
cerebellar hypoplasia
cerebellar infarction
cerebellar lesion
cerebellar peduncle
cerebellar plaques, amyloid
cerebellar vermis
cerebellum
cerebellum, disease of
cerebellum, neoplasms of
cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy
cerebral blood flow
cerebral cortex
cerebral cortical atrophy
cerebral infarction, subcortical
cerebral ischemia
cerebral palsy
cerebral peduncle
cerebral vasculature
cerebrospinal fluid
cerebrospinal fluid, abnormal
cerebrospinal fluid, lactic acid concentration
cerebrospinal fluid, pressure low
cerebrotendinous xanthomatosis
cerebrovascular accident
cerebrovascular accident, cryptogenic
cerebrovascular accident, non atherosclerotic cause of
cerebrovascular accident, young adult
cerebrovascular disease
Charcot-Marie-Tooth
chemotherapy, CNS treatment and complications with
children
chloride channel dysfunction
choking
cholestanol
cholesterol
chorea
chorea, familial
choreoathetosis
chromosomal abnormality
chromosome 11
chromosome 12
chromosome 14
chromosome 15
chromosome 18
chromosome 19
chromosome 2
chromosome 3
chromosome 6
chromosome 9
chronic progressive external ophthalmoplegia
cirrhosis
cisterna magna, enlarged
Clinical Pathologic Conference(C.P.C.)
clonus
clubfoot as related to neurologic disease
coagulopathy
Cockayne's syndrome
cognition
cognition, slowed
cogwheel rigidty
collagen vascular disease
Collier's sign
coma
compression neuropathy
cone-rod dystrophy
congenital malformation
congestive heart failure
conjunctival biopsy
consanguinity
contractures, joint
controversies in neurology
conus medullaris, lesion of
cornea, abnormal
cornea, opacity of
corpus callosum
corpus callosum, atrophy of
corpus callosum, lesion of
corpus callosum, thinning
cortical blindness
cough
cranial neuropathy, multiple
cranio-cervical junction
creatine phosphokinase(CPK)elevated
Creutzfeldt-Jakob disease, genetic
crying, pathologic
Cuba
cultured skin fibroblasts
cyst
cyst, peritumoral
cyst, neoplastic cerebellum
cyst, parenchymal
deafmute
deafness
deep gray nuclei
deep tendon reflexes
degenerative diseases of CNS
delay in diagnosis
delayed dentition
dementia
dementia, familial
dementia, frontotemporal
dementia, presenile
dementia, rapidly progressive
dementia, transmissible
demyelinating disease
dentate nuclei
dentate nuclei, lesion of
dentatorubral-pallidoluysian atrophy
depression
dermatoglyphics
developmental abnormality of brain
developmental disability
developmental milestones
developmental milestones, loss of
developmental retardation
developmental venous anomalies
dexterity, impaired
diabetes insipidus
diabetes mellitus
diarrhea
differential diagnosis
difficulty climbing stairs
dilantin
diplopia
dizziness
DNA probes
down-beat nystagmus
down-beat nystagmus, primary position of gaze
Dravet syndrome
drooling
Durett hemorrhages
dwarfism
dysarthria
dysdiadochokinesia
dysmetria
dysmorphic
dysphagia
dyspraxia
dyssynergia cerebellaris myoclonica
dystonia
ear, pain in
Ehlers-Danlos syndrome
electroencephalogram
electroencephalogram, abnormalities of
electromyogram
electron microscopy
electroretinograph
encephalocele
encephalopathy
endolymphatic sac tumors
enzyme, defect
epicanthal folds
epidemiology of neurology
episodic neurologic deficits
erectile dysfunction
ethics in neurology
evoked potentials
excitotoxin
exome sequencing
extraocular muscle lesion
eye movement, disorders of
Fabry's disease
facial appearance, abnormal
facial expression abnormality
facial nerve palsy, bilateral
facial pain
failed medical management
failure to thrive
falling
familial
familial hemiplegic migraine
familial periodic ataxia
family planning
fasciculation
fatigue
feeding disorder
fetal alcohol syndrome
fever
fine motor function, impaired
finger nose finger test
fingerprint bodies
fish
fluorescene in situ hybridization
fluorouracil
flush syndrome
foam cells
foot deformity
foot drop
fourth ventricle, enlargement of
Fragile-X associated tremor/ataxia-syndrome
fragile-X syndrome
fragile-X syndrome, carrier
frataxin
Friedreich's ataxia
Friedreich's ataxia, late onset
frontotemporal dementia, behavioral variant
fundus, abnormality of
gadolinium
gait disorder
gait, spastic
galactosemia
galactosidase
gargoylism
gastrointestinal disease, neurologic complications
gastrointestinal motility
gastrointestinal perforation
gastroparesis
gaze palsy
gaze palsy, congenital horizontal
gaze palsy, horizontal
gaze palsy, horizontal-bilateral
gaze palsy, supranuclear
gender
gene
gene mutation
genetic counselling
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
Gerstmann-Straussler-Scheinker disease
Gillespie syndrome
glaucoma
gliosis
globus pallidus, lesion of
globus pallidus, lesion of, bilateral
glucose tolerance test, abnormal
glutamate dehydrogenase deficiency
glutamic acid
granular osmiphilic material
growth retardation
gyrus, abnormal
Hallervorden Spatz disease
Hallgren's syndrome
hallucination
hammertoes
handwriting
head injury
head nodding
headache
headache, positional
headache, throbbing
headache, unilateral
hearing loss
hearing loss, sudden, unilateral
heart block
heat intolerance
heavy metal intoxication
heel-knee-shin test
hemangioblastoma
hematuria, gross
hemiplegia
hemochromatosis
hemochromatosis, primary
hemophagocytic lymphohistiocytosis
hemophagocytic lymphohistiocytosis, cerebromeningeal
hepatic encephalopathy
hepatic failure
hepatolenticular degeneration(Wilson's disease)
hepatomegaly
heralding manifestation
HGPPS
HLA
hot cross bun sign
human T-lymphotropic virus type II(HTLV-II)
huntingtin
Huntington's chorea
Hurler's syndrome
hydrocephalus
hydrocephalus, congenital
hydroxytryptophan L-5(L-5 HTP)
hyperactivity
hypernephroma
hyperpigmentation of skin
hyperreflexia
hyperthyroidism
hypertonia
hypodontia
hypokalemic periodic paralysis
hypomyelination
hyponatremia
hypopigmentation of skin
hyposmia
hypotonia
hypoxia
imbalance
imbalance, postural
immunodeficiency
immunosuppression
impotence
impulsivity
inappropriate antidiuretic(A.D.H.)hormone, CNS involvement with
inborn errors of metabolism
incidental finding
inclusion bodies
inclusion bodies, eosinophilic cytoplasmic
inclusion bodies, eosinophilic intranuclear
inclusion bodies, intracytopasmic
inclusion bodies, intranuclear
inclusion bodies, ubiquitin
incoordination
infection
intellectual deficit
intellectual deterioration
internuclear ophthalmoplegia
internuclear ophthalmoplegia, bilateral
intestinal pseudoobstruction
intracerebral hemorrhage
intracerebral hemorrhage, lobar
intracerebral hemorrhage, recurrent
intracranial pressure, increased
iris, abnormal
irritability
isoniazid
Jakob-Creutzfeldt disease
Jakob-Creutzfeldt disease, cerebellar variant
jaw pain
joint hypermobility
Joubert syndrome
karyotyping
Kearns-Sayre syndrome
keratoconus
Korsakoff's psychosis
kyphosis
lactic acidemia
laughing, pathologic
Laurence-Moon-Bardet-Biedl syndrome
L-dopa
Leber's congenital amaurosis
leg weakness, bilateral
Leigh's disease
lenticular nucleus, lesion of
lenticular nucleus, lesion of, bilateral
leukemia
leukemia, neurologic findings assoc.with
leukodystrophy
leukoencephalopathy
leukoencephalopathy, differential diagnosis
leukoencephalopathy, hereditary diffuse
life expectancy
lifestyle modification
lipid storage disorder of CNS
lissencephaly
liver function enzymes
low back pain
lymphoma
lysosomal storage disease
macrognathia
macular degeneration
malformation, CNS, congenital
malformation, vascular
malformation, vascular, cerebral
malignant hyperpyrexia
marche a petits pas
Marinesco-Sjogren syndrome
masked facies
medulla oblongata
medulla oblongata, lesion of
medulla oblongata, malformation
medulla oblongata, neoplasm of
MELAS syndrome
memory, impairment of
meningismus
meningoencephalopathy
mental retardation
metachromatic leukodystrophy
metachromatic leukodystrophy, adult onset
methotrexate
methylhydrazine derivatives
Mexican
microcephaly
microdontia
microhemorrhage, intracerebral
midbrain, atrophy
midbrain, lesion of
middle cerebellar peduncle
middle cerebellar peduncle, lesion
middle cerebellar peduncle, lesion, bilateral
migraine
migraine, hemiplegic
Minamata disease
misdiagnosis
mitochondrial disease
mitochondrial encephalomyopathy
MNGIE syndrome
molecular genetics
monoamine oxidase inhibitors
mononeuropathy
mortality
motor neuron disease
movement disorder
movement disorder, extrapyramidal
MRI
MRI pattern
MRI, abnormal
MRI, CAT scan compared to
MRI, contrast enhanced
MRI, diffusion weighted
MRI, FLAIR
MRI, gradient-echo
MRI, high signal foci on
MRI, incidental finding
MRI, negative
MRI, punctate pattern
MRI, serial
MRI, spinal cord
MRI, susceptibility weighted
MRI, target sign
MRS
mucopolysaccharidoses
multiple sclerosis
multiple sclerosis, misdiagnosis
multiple system atrophy
muscle biopsy
muscle cramp
muscle pain
muscle weakness
muscle weakness, proximal
muscular dystrophy
myasthenic syndrome
myelitis, longitudinal
myelomalacia
myelopathy
myoclonic jerks
myoclonus
myoclonus, epilepsy
myopathy
myopathy, alcoholic
myopia
myotonia congenita
myotonia dystrophica
mysoline
Native Americans
nausea and vomiting
neck pain
negative
neoplasm, metastatic to CNS
neoplasm, posterior fossa
neoplasm, primary of CNS
neoplasm, primary of CNS-familial occurrence
neoplasm, primary of CNS-surgical treatment of
nerve conduction studies
neuritis
neuroaxonal dystrophy
neuroaxonal dystrophy, infantile
neuroaxonal dystrophy, juvenile
neuroaxonal leukodystrophy
neurocutaneous disease
neuroendocrinology
neurologic complications of, systemic cancer
neurologic complications of, systemic disease
neurologic disease
neurologic disease, diagnoses of
neurologic examination, focal
neurologic signs
neuronal ceroid-lipofuscinosis
neuronal intranuclear inclusion disease
neuronopathy
neuronopathy, sensory
neuroophthalmology
neuropathology
neuropathology, brain
neuropathy
neuropathy, hereditary peripheral
neuropathy, peripheral
neuropathy, sensory
neurotoxin
neurotransmitter
next-generation sequencing
Niemann-Pick disease
nitrogen mustard
nutritional deficiency
nystagmus
nystagmus, gaze-evoked
nystagmus, gaze-paretic
nystagmus, hereditary
nystagmus, pendular
nystagmus, periodic
nystagmus, primary position of gaze
nystagmus, rotary
nystagmus, upbeating-in primary position of gaze
nystagmus, vertical
obesity
ocular motility, disorders of
ocular myopathy
oculodentodigital dysplasia
old age, neurology of
ophthalmoplegia
ophthalmoplegia, progressive external
optic atrophy
optical coherence tomography
orbit, tomograms of
organ rupture
orthostatic hypotension
oscillopsia
overlap syndrome
owl's eye sign of spinal cord
pain
pain, abdominal
pain, back
pain, flank
pain, head
palatal myoclonus
palpitations
pancreatic cyst
paramyotonia congenita
paranoia
paraparesis
paraparesis, familial spastic
paraparesis, familial spastic, classification
paraparesis, spastic
paratonia
paresthesias
Parkinson disease
Parkinson disease, benign tremulous
Parkinson disease, familial
Parkinson disease, L-dopa nonresponsive
Parkinsonism multiple-system atrophy
Parkinsonism syndrome
paroxysmal neurologic deficits
PAS positive
PAS positive material in the brain
past pointing
pathology
penicillamine
periodic paralysis
pes cavus
phakomatoses
pheochromocytoma
phlebotomy
photosensitivity, skin
physostigmine
pigmentary retinopathy
pleocytosis of cerebrospinal fluid
pneumonia
pneumothorax
poison, mercury
poison, neurologic problems with
POLG1 gene
POLR3B
polycystic kidneys
polydactyly
polymerase chain reaction
polyneuropathy
pons, atrophy
pons, hypoplasia
pons, lesion of
pontocerebellar atrophy
positional head-hanging test
posterior fossa, lesion of
postural abnormality
potassium channel antibodies
potassium channel dysfunction
pregnancy, neurologic complications in
prevention of neurologic disorders
prion disease
prion protein gene
procarbazine
progeria
prognathism
prognosis
progressive infantile poliodystrophy
progressive neurologic disorder
progressive pallidum atrophy
propranolol
proprioception, abnormal
protein 14-3-3, cerebrospinal fluid
proteinuria
prothrombin time, prolonged
pseudobulbar palsy
pseudoretinitis pigmentosa
psychiatric disorder
psychiatric problems in neurologic disorders
psychological testing
psychological testing, neurologic problems
psychomotor retardation
psychosis
ptosis
ptosis, bilateral
Purkinje cell
pursuit eye movements, abnormal
putamen, lesion of
putamen, lesion of, bilateral
pyramidal
pyramidal tract
pyramidal tract dysfunction
pyramidal tract, uncrossed
pyruvate metabolism, abnormality of
quadriparesis
quadriplegia
radiation hypersensitivity
radiation therapy, CNS treatment and complications with
radiation therapy, stereotactic
ragged-red fibers
rash
reading disorder, acquired
real-time quaking-induced conversion
remote effect of cancer on the nervous system
renal cell carcinoma
renal cyst
renal infarct
respiratory depression
respiratory failure
retina, abnormal
retinal degeneration
retinal detachment
retinal dysplasia
retinal hemangioma
retinal lesion
retinal tumor
retinitis pigmentosa
retinopathy
review article
RFLPs
rigidity
risk factors
Romberg's sign
Rosenthal fibers
saccadic eye movements, abnormal
schizophrenia
SCN1A gene
scoliosis
scoliosis, neurologic association with
screening
seizure
seizure, children
seizure, familial
seizure, febrile
seizure, intractable
seizure, neonatal
seizure, paradoxical
seizure, photosensitive
seizure, psychomotor-temporal lobe
seizure, tonic-clonic
seizure, treatment of
senile plaques
sensorineural hearing loss
sensory loss
Shy-Drager syndrome
sinemet
skin, biopsy
skin, darkening of
skin, lesions in neurologic disorders
skull x-ray, abnormal
sleep apnea
sleep pathology and physiology
smiling
sodium channel dysfunction
somatosensory evoked potentials
spastic ataxia
spastic paraplegia, type 7
spasticity
speech disorder
speech disorder, childhood
speech disorder, non aphasic
speech, delayed development of
speech, loss of
Spielmeyer Vogt syndrome
spinal cord
spinal cord, extramedullary cyst of
spinal cord, lesion of
spinal cord, neoplasm
spinal cord, vascular malformation of
spinal muscular atrophy
spine, metastasis to
spinocerebellar ataxia
spinocerebellar ataxia type 1
spinocerebellar ataxia type 10
spinocerebellar ataxia type 12
spinocerebellar ataxia type 14
spinocerebellar ataxia type 17
spinocerebellar ataxia type 2
spinocerebellar ataxia type 3/Machado Joseph disease
spinocerebellar ataxia type 5
spinocerebellar ataxia type 6
spinocerebellar ataxia type 7
spinocerebellar ataxia type 8
spinocerebellar degeneration
spinopontine atrophy, dominant
splenomegaly
spondylolysis
spongy degeneration of brain
stage-fright
staggering
startle myoclonus
status epilepticus
stem cell transplantation
stereotaxic surgery
stimulation, deep brain
storage disease of CNS
striatonigral degeneration
striatonigral degeneration, infantile
striatum, lesion of
striopallidodentate calcifications, familial idiopathic
stuttering
subarachnoid hemorrhage
subcortical U fibers
substantia nigra
succinate dehydrogenase deficiency
superior cerebellar peduncle
symmetric brain lesions
syndactyly
syphilis, neurologic complications with
syringomyelia
systemic illness
tandem gait, ataxic
tauopathy
teeth, abnormal
teeth, number of in infants
teeth, wide-spaced
telangiectases
thalamotomy
thalamus, focused ultrasound ablation
thalamus, lesion of
thalamus, lesion of-bilateral
thiamine
thyrotoxicosis
tinnitus
titubation
tongue, protrusion of
topiramate
toxins, nervous system
transient neurologic deficit
trazodone
treatment of neurologic disorder
tremor
tremor, cerebellar
tremor, classification
tremor, differential diagnosis of
tremor, intention
tremor, orthostatic
tremor, physiologic
tremor, post traumatic
tremor, postural
tremor, psychogenic
tremor, resting
tremor, rubral
tremor, surgical treatment of
tremor, thalamic stimulation for suppression of
tremor, treatment of
tremor, voice
tremor, writing
trichopoliodystrophy
trinucleotide repeats
trisomes
trisomy 9p
tumor suppressor gene
upgaze, paralysis of
urinary incontinence
urinary urgency
Usher's syndrome
vasculopathy
vertebral-basilar insufficiency
vertigo
vertigo, episodic
vestibulopathy
vibratory sensation, abnormal
vinblastine
vincristine neurotoxicity
viral infection
vision, failure of in childhood
visual acuity, decreased
visual field defect
visual fields, constricted
visual loss
visual loss, progressive
visual loss, slow
vitamin deficiency
vitamin E
vitamin E deficiency
vitamin supplementation
vocal cord paralysis
voice, abnormality of
Von Hippel Lindau
Von Hippel Lindau, carrier
Von Hippel Lindau, screening protocol for
von Hippel-Lindau, screening
Walker-Warburg syndrome
walking frame
walking, difficulty with
weakness
weakness, generalized
weakness, progressive
weaning from respirator, failure to
weight loss
Wernicke's encephalopathy
Western immunoblot test
wheelchair
white matter disease
white matter disease, pattern
wide based gait
Wolfram syndrome
workup
wound healing, poor
wrist drop
writing
X-linked bulbospinal neuronopathy
Showing articles 0 to 50 of 2647 Next >>

A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024

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

A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023

Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022

More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022

Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021

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

A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021

Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021

Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021

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

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

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018

Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018

Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018

Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,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 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,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

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
Neurol 86:28-35, La Piana, R.,et al, 2016

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015

Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
Adams & Victors Principles of Neurology, Chp 33, pg 773, Ropper, A.H.,et al, 2014

Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014

Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014

Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Cerebellar Degeneration
Adams & Victors Principles of Neurology, Chp 39, pg 1105, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1106, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014

Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013

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

CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012

Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009

The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009

Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008

Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008

Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008

A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008



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