Neudle.com: ataxia familial

Differential
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abdominal distention

abdominal reflex, absent

abducens nerve paralysis

achilles tendon, enlarged

acoustic nerve

acoustic neurinoma, bilateral

acquired immunodeficiency syndrome

acquired immunodeficiency syndrome myelopathy

acromicria

acyl CoA dehydrogenase deficiency

Addison's disease

adrenoleukodystrophy

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult polyglucosan body disease

advances in neurology

adverse drug reaction

alcohol, neurologic complications with

alcoholism

Alexanders disease

Alexanders disease, adult onset

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

alternating rapid movement, impaired

amyotrophic lateral sclerosis

anterior tibial muscle weakness

antibodies to voltage-gated calcium channels

anticholinergic drugs

anticholinesterase

anticonvulsants

anticonvulsants, effectiveness

anticonvulsants, selection of

apnea, primary central

apraxia

apraxia of eye movements

areflexia

arm weakness

Arnold Chiari malformation

arrhythmia, cardiac

arterial dissection, carotid

arterial dissection, multiple

ataxia telangiectasia

ataxic-dystonia syndromes

ataxin

ataxin-2

atherosclerosis, premature

auditory evoked brainstem potentials

autism

autoimmune disease

autonomic dysfunction

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

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

biologic markers

biopterin deficiency

biotin deficiency

biotinidase deficiency

bladder dysfunction

blindness

blinking, reduced

blood dyscrasias, neurologic findings with

brainstem, neoplasms of

Brown-Vialetto-Van Laere syndrome

calcification, intracranial

calcium channel dysfunction

carcinoembryonic antigen

carcinoma

cardiomyopathy

carotid artery disease

CAT scan

CAT scan, abnormal

CAT scan, emission

CAT scan, emission, abnormal

cataplexy

cataracts

cataracts, congenital

caudate nucleus, atrophy

celiac disease, adult

central core disease

cerebellar ataxia, autosomal recessive

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar ataxia, neuropathy and vestibular areflexia syndrome

cerebellar ataxia, primary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemangioma

cerebellar hypoplasia

cerebellar lesion

cerebellar plaques, amyloid

cerebellar vermis

cerebellum

cerebellum, disease of

cerebellum, neoplasms 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 edema

cerebral infarction, subcortical

cerebral palsy

cerebro hepato renal syndrome

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, proteincytologic dissociation

cerebrospinal fluid, xanthochromia of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, genetic

cerebrovascular accident, mimics

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

Chediak-Higashi syndrome

chemotherapy, CNS treatment and complications with

cherry red spot-myoclonus syndrome

chewing movements

children

chloride channel dysfunction

chromosomal abnormality

chronic progressive external ophthalmoplegia

ciguatera poisoning

cirrhosis

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

Coats syndrome

cobalamin C deficiency

Cockayne's syndrome

coenzyme Q10 deficiency

color vision, impaired

congestive heart failure

controversies in neurology

conus medullaris, lesion of

cornea, abnormal

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cough

cranial nerve palsies

cranial neuropathy

cranial neuropathy, multiple

cranio-cervical junction

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

crossed adductor reflex

cry, abnormal

cry, weak

cryopyrin-associated periodic syndrome

Cuba

cultured skin fibroblasts

cyclic vomiting

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

degenerative diseases of CNS

dementia, frontal lobe type

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, transmissible

demyelinating disease

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

developmental disability

developmental milestones

developmental milestones, loss of

developmental retardation

dexterity, impaired

diabetes insipidus

diabetes mellitus

diabetes mellitus, chemical

diabetes mellitus, neurologic manifestations of

diagnostic criteria

diaphragmatic paralysis

diarrhea

diet

differential diagnosis

difficulty climbing stairs

dilantin

diplopia

distal muscle atrophy

distal muscle weakness

diurnal variation

dizziness

DNA probes

dopa responsive dystonia

dopamine agonist

down-beat nystagmus

down-beat nystagmus, primary position of gaze

Dravet syndrome

drooling

dropped head syndrome

drug abuse, inhalation

drug induced neurologic disorders

dyssynergia cerebellaris myoclonica

dystonia

dystonia musculorum deformens

dystonia, focal

dystonia, treatment of

dystrophin

ears of the Lynx MR sign

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

electromyogram

electronystagmography

encephalopathy, progressive

endemic area

enzyme, defect

enzyme, muscle disease

epicanthal folds

epidemiology of neurology

epileptic encephalopathy

episodic disorders

episodic neurologic deficits

extraocular muscle lesion

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

facial expression abnormality

facial nerve palsy, bilateral

facial pain

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

familial hemiplegic migraine

familial periodic ataxia

family planning

FARS2 deficiency

fasciculation

fatal familial insomnia

fatigue

fatty acid, elevated plasma content

feeding disorder

fever

fever, recurrent

fine motor function, impaired

finger nose finger test

finger tapping

fingerprint bodies

fish

fluorescene in situ hybridization

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontal bossing

frontal lobe, atrophy

frontotemporal dementia, behavioral variant

fundus, abnormality of

gastrointestinal disease, neurologic complications

gastrointestinal motility

gastroparesis

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

geographic location

Gerstmann-Straussler-Scheinker disease

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose tolerance test, abnormal

glutamate dehydrogenase deficiency

glycogen storage disease

gout

Gowers maneuver

granular osmiphilic material

gray hair

grimacing

growth hormone deficiency

growth retardation

Guillain Barre syndrome

Hallervorden Spatz disease

Hallervorden Spatz disease, late onset

headache, sudden onset of

headache, throbbing

hearing loss

hearing problems in children

hemidiaphragm, paralysis of

hemiparesis

hemiplegia

hemochromatosis

hemochromatosis, primary

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hepatic encephalopathy

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatolenticular degeneration, non-Wilsonian

hepatomegaly

hepatosplenomegaly

heralding manifestation

hereditary myopathy with early respiratory failure

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

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

huntingtin

Huntington's chorea

Huntington's chorea, late onset

Huntington's chorea, misdiagnosis of

Huntington's disease, children

Hurler's syndrome

hydroxytryptophan L-5(L-5 HTP)

hyperactivity

hyperammonemic encephalopathy

hyperpigmentation of skin

hypertrophic intracranial pachymeningitis

hypogonadism, hypogonadotropic

hypokalemia

hypokalemic periodic paralysis

hypometric saccades

hypomyelination

hyponatremia

hypopigmentation of skin

hyporeflexia

hyposmia

hypotension, systemic

hypotonia

hypotonia, infants

iatrogenic neurologic disorders

inappropriate antidiuretic(A.D.H.)hormone, CNS involvement with

inappropriate behavior

inattention

inborn errors of metabolism

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

intellectual deterioration

intestinal pseudoobstruction

intracerebral hemorrhage

intracranial pressure, increased

intrinsic hand muscles, wasting of

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

jaundice

jaw pain

Jewish

Kayser-Fleischer ring

Kearns-Sayre syndrome

keratoconus

kinesia paradoxica

Korsakoff's psychosis

kyphoscoliosis, neurologic causes of

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

learning disability

learning disability, in children

Leber's hereditary optic neuropathy

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of, bilateral

leukemia

leukemia, neurologic findings assoc.with

leukocyte enzyme abnormality

leukocyte peroxidase

leukodystrophy

leukoencephalopathy

leukoencephalopathy, differential diagnosis

lid closure, weakness of

linear lesion

lipid storage disorder of CNS

lipid storage myopathy

liver disease

liver function enzymes

lysosomal storage disease

malformation, CNS, congenital

malignant hyperpyrexia

maple syrup urine disease

marche a petits pas

Marinesco-Sjogren syndrome

masked facies

MELAS syndrome

memory, defect of recent

memory, impairment of

meningismus

meningitis, aseptic

meningitis, carcinomatous

meningitis, CSF cell count-normal

meningoencephalopathy

mental retardation

MERRF syndrome

metabolic acidosis

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methotrexate

methylhydrazine derivatives

methylmalonic acidemia

microhemorrhage, intracerebral

midbrain, atrophy

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoamine oxidase inhibitors

movement disorder, extrapyramidal

movement disorder, hyperkinetic

movement disorder, treatment of

MRI

MRI, abnormal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, emergent

MRI, eye of tiger sign

MRI, FLAIR

MRI, high signal intensity of basal ganglia

MRI, muscle

MRI, negative

MRI, paramagnetic effect

MRI, punctate pattern

MRI, serial

MRI, spinal cord

MRI, spine

MRI, susceptibility weighted

MRI, T1 weighted high signal foci

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle atrophy, progressive

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, differential diagnosis of

muscular dystrophy, Duchenne

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

myelopathy, chronic progressive

myoclonus, stimulus sensitive

myopathy, distal Laing

myopathy, genetic

myopathy, hereditary

myopathy, metabolic

myopathy, mitochondrial

neoplasm, metastatic to CNS

neoplasm, primary intracranial

neoplasm, primary of CNS

neoplasm, primary of CNS-surgical treatment of

nerve biopsy

nerve conduction studies

nerve growth factor

neuritis

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurofibromatosis 1

neurogenic bladder

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination

neurologic examination, focal

neurologic signs

neurologic testing

neuromuscular disease, electrodiagnosis of

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronal migration disorder

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, amyloid

neuropathy, ataxia, retinitis pigmentosa

neuropathy, ataxic

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, onion bulb

neuropathy, peripheral

neuropathy, sensory

neurotoxin

neutropenia

next-generation sequencing

nutritional deficiency

nystagmus

nystagmus, gaze-evoked

nystagmus, gaze-paretic

nystagmus, hereditary

nystagmus, monocular

nystagmus, periodic

nystagmus, primary position of gaze

nystagmus, rotary

nystagmus, upbeating-in primary position of gaze

nystagmus, vertical

obesity

ochronosis

ocular motility, disorders of

ocular myopathy

oculodentodigital dysplasia

old age, neurology of

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic ataxia

optic atrophy

optic atrophy, bilateral

optic atrophy, hereditary

optic nerve

optic neuropathy

optical coherence tomography

optokinetic nystagmus, abnormal

orbit, tomograms of

orthopnea

orthostatic hypotension

paramyotonia congenita

paranoia

paraparesis

paraparesis, familial spastic

paraparesis, familial spastic, classification

paraparesis, spastic

paraparesis, spastic, tropical

Parkinson disease, differential diagnosis of

Parkinson disease, dystonia with

Parkinson disease, familial

Parkinson disease, freezing phenomena in

Parkinson disease, juvenile

Parkinson disease, pathogenesis of

Parkinson disease, surgical treatment of

Parkinson disease, treatment of

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

past pointing

pathology

patient information and support

photosensitivity, skin

physostigmine

phytanic acid

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pneumonia

poison, mercury

poison, neurologic problems with

polyglucosan body disease

polymerase chain reaction

polyneuropathy

pons, atrophy

pons, lesion of

pontocerebellar atrophy

portal caval shunt

positional head-hanging test

postural abnormality

potassium channel antibodies

potassium channel dysfunction

Prader-Labhart-Willi syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

pretectal syndrome

prevention of neurologic disorders

primary episodic ataxia

primary lateral sclerosis

prion disease

prion protein gene

prisoners of war, neurologic complications in

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

progressive pallidum atrophy

proprioception, abnormal

protein 14-3-3, cerebrospinal fluid

proteinuria

proximal muscle atrophy

pseudobulbar palsy

pseudohypertrophy

pseudoretinitis pigmentosa

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, neurologic problems

psychomotor retardation

pursuit eye movements, abnormal

pyramidal

pyramidal tract

pyramidal tract dysfunction

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

radiation hypersensitivity

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

radiculopathy

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

rash

reading disorder, acquired

real-time quaking-induced conversion

remote effect of cancer on the nervous system

renal failure

renal stones

renal tubular acidosis

respiratory failure

respiratory tract infection

reticulum cell sarcoma

reversible neurologic disorder

riboflavin transporter deficiency

saccadic eye movements, abnormal

schizophrenia

scissors gait

sclerae, hyperpigmented

SCN1A gene

scoliosis

scoliosis, neurologic association with

seizure, photosensitive

seizure, psychomotor-temporal lobe

seizure, tonic-clonic

seizure, treatment of

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

sensory ganglia

sensory ganglia, abnormal

skin, lesions in neurologic disorders

skull bone, thickening

sleep pathology and physiology

slit lamp examination

sloped shoulders

slurred speech

small vessel disease

small vessel disease, cerebral

smiling

sodium channel dysfunction

somatosensory evoked potentials

spartin

spastic ataxia

spastic diplegia

spastic paraplegia, type 11

spastic paraplegia, type 7

spasticity

spastin

speech disorder

speech disorder, childhood

speech disorder, non aphasic

speech, delayed development of

speech, loss of

speech, soft

sphingolipodoses

Spielmeyer Vogt syndrome

spinal cord

spinal cord, lesion of

spinal cord, neoplasm

spinal cord, pathologic exam of

spinal muscular atrophy

spinal xanthomatosis

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 12

spinocerebellar ataxia type 14

spinocerebellar ataxia type 16

spinocerebellar ataxia type 17

spinocerebellar ataxia type 2

spinocerebellar ataxia type 28

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

steroid therapy, CNS treatment and complications with

stiff legs

storage disease of CNS

strabismus

stress, emotional

striatonigral degeneration

striatonigral degeneration, infantile

striopallidodentate calcifications, familial idiopathic

strokelike episodes

stuttering

subarachnoid hemorrhage

superior cerebellar peduncle

symmetric brain lesions

syndactyly

syphilis, neurologic complications with

systemic illness

tachycardia

tandem gait, ataxic

tapetoretinal degeneration

tauopathy

Tay-Sachs disease

teeth, abnormal

teeth, number of in infants

teeth, wide-spaced

telangiectases

temper tantrums

temporal lobe, atrophy

temporal lobe, lesion

thalamus, lesion of-bilateral

tongue, fasciculations of

tongue, protrusion of

tonic foot response

topiramate

toxins, nervous system

transient ischemic attack

transient ischemic attack, recurrent

transient neurologic deficit

transverse smile

treatment of neurologic disorder

trientine dihydrochloride

trinucleotide repeats

Unverricht-Lundborg disease

upgaze, paralysis of

urea-cycle enzymopathies

urinary frequency

urinary incontinence

urinary urgency

urine test for metabolic disorders

urine, dark

Usher's syndrome

vasculopathy

venous thrombosis, non-cerebral

vertigo

vertigo, episodic

vertigo, treatment of

vestibular areflexia

vestibulopathy

vibratory sensation, abnormal

vinblastine

vincristine neurotoxicity

violent behavior

viral isolation

visual acuity, decreased

visual evoked response

visual field defect

visual fields, constricted

visual loss

visual loss, progressive

vitamin supplementation

vitiligo

vocal cord paralysis

voice, abnormality of

Von Hippel Lindau

walking

walking frame

walking, difficulty with

walking, difficulty with in dark

weakness, generalized

weakness, progressive

weakness, proximal

weaning from respirator, failure to

web sites

weight loss

Western immunoblot test

wheelchair

white matter disease

white matter disease, subcortical

X-linked bulbospinal neuronopathy

zinc

Showing articles 50 to 100 of 2602 << Previous Next >>

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

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016

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

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

A 28-year-old Woman with Lower Extremity Spasticity and Microcytic Anemia
Neurol 85:e11-e14, Bonda, C.,et al, 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, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, 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

The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014

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

Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 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

A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

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

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

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

Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007

Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006

Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006

The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
Neurol 64:1258-1260, Chen,D-H.,et al, 2005

Autonomic Dysfunction in Machado-Joseph Disease
Arch Neurol 62:630-636, Yeh,T-H.,et al, 2005

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

Clinical Spectrum of Episodic Ataxia Type 2
Neurol 62:17-22, Jen,J.,et al, 2004

The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004

The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003

Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002

Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002

Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001

Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001

SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001

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