Neudle.com: hereditary neuropathy

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abdominal cramps

abdominal distention

abducens nerve paralysis

acoustic nerve, vestibular division of

acral sensory symptoms

Addison's disease

adolescent medicine

adrenoleukodystrophy

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult polyglucosan body disease

advances in neurology

adverse drug reaction

alcohol intolerance

alcohol intoxication

alcohol, blood level of

alcohol, neurologic complications with

alcoholic blackout

alcoholic dementia

alcoholic polyneuropathy

alcoholic withdrawal states, DT's, convulsions, etc.

Alexanders disease

Alexanders disease, adult onset

alkylating agents

alpha-fetoprotein

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

Alzheimer's disease

Alzheimer's disease, familial

aminoacidopathies

amyloid angiopathy, cerebral

amyloidosis, oculoleptomeningeal, familial

amyotrophic chorea-acanthocytosis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, epidemiology of

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, guamian type of

angina pectoris

ankle reflex, absent

anterior interosseous neuropathy

anterior tibial muscle weakness

anti MAG antibodies

apnea, primary central

apraxia of eye movements

Arnold Chiari malformation

arrhythmia, cardiac

arteritis, temporal

arthrogryposis multiplex

arthropathy, neuropathic

arylsulfatase A

arylsulfatase B

ataxia telangiectasia

ataxia, cerebellar

ataxia, hereditary

ataxia, progressive

ataxia, sensory

ataxia, truncal

atherosclerosis, premature

atrioventricular block

auditory evoked brainstem potentials

automatic implantable cardioverter-defibrillator

autonomic dysfunction

autonomic nervous system

autonomic neuropathy

autonomic neuropathy, idiopathic

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

B 12 deficiency

bacterial infection

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

battered child syndrome

behavioral disorder

Behcet's syndrome

Behr's optic atrophy

benign essential tremor

bicaudate index

biologic markers

biotin deficiency

biotinidase deficiency

bitemporal visual field defect

bladder dysfunction

blindness, sudden

blood dyscrasias, neurologic findings with

bone density, increased

bone marrow transplantation

brachial neuritis

brachial neuritis, acute

brachial neuritis, bilateral

brachial neuritis, prognosis of

brachial plexus

brachial plexus neuropathy

brachial plexus neuropathy, bilateral

brachial plexus neuropathy, familial

brachial plexus neuropathy, recurrent

brainstem, atrophy

brainstem, dysfunction

brainstem, infarction of

brainstem, lesion of

Brown-Vialetto-Van Laere syndrome

bulbar palsy, childhood

bulbar palsy, progressive

burning paresthesia

calcification, intracranial

caloric testing

Canavan's disease

carbon monoxide poisoning

carbonic anhydrase II deficiency

carcinoembryonic antigen

carcinoma of thyroid

carotid angiogram

carpal tunnel syndrome

CAT scan, abnormal

CAT scan, base of skull

CAT scan, emission, abnormal

CAT scan, false negative

CAT scan, metrizamide

CAT scan, myelogram with

cataracts, congenital

cauda equina, enhancement

cauda equina, lesion of

caudate nucleus

caudate nucleus, atrophy

cavernous sinus

cavernous sinus, lesion of

central core disease

central pontine myelinolysis

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 lesion

cerebellar vermis

cerebellum, disease of

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortical atrophy

cerebral edema, vasogenic

cerebral infarction

cerebral infarction, subcortical

cerebral vasculature

cerebral venous thrombosis

cerebral venous thrombosis, deep

cerebro hepato renal syndrome

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, culture of, viral

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, gammaglobulin of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, oligoclonal IgG in

cerebrospinal fluid, pressure low

cerebrospinal fluid, protein of

cerebrospinal fluid, xanthochromia of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, multiple

cerebrovascular accident, young adult

cerebrovascular disease, cardiovascular disease with

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

cherry red spot

cherry red spot-myoclonus syndrome

chewing movements

cholesterol, HDL

chorea, familial

choreoathetosis

chromosomal abnormality

chronic progressive external ophthalmoplegia

cingulate island sign

cirrhosis, infancy

cisternogram, radionuclide

claudication, intermittent of cauda equina

Clinical Pathologic Conference(C.P.C.)

clubbing of fingers

clubfoot as related to neurologic disease

coat-hanger pain

Cockayne's syndrome

coenzyme Q10 deficiency

cold temperature

color vision, impaired

compression fracture

compression neuropathy

compression neuropathy, recurrent

conduction block

cone-rod dystrophy

congestive heart failure

contractures, joint

cornea, abnormal

cornea, opacity of

corneal dystrophy

corpus callosum

corpus callosum, hypoplastic

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cranial nerve enhancement

cranial nerve enlargement

cranial nerve palsies

cranial nerve palsies, familial

cranial nerve palsies, recurrent

cranial nerve tumor

cranial neuropathy

cranial neuropathy, multiple

craniopharyngioma

creatine phosphokinase(CPK)elevated

cryopyrin-associated periodic syndrome

cultured skin fibroblasts

cytochrome c oxidase

cytochrome c oxidase, deficiency

deafness, bilateral progressive vs.unilateral acute

deafness, unilateral

deep gray nuclei

deep tendon reflexes

degenerative diseases of CNS

Dejerine-Sottas syndrome

dementia, childhood

dementia, familial

dementia, rapidly progressive

dementia, thalamic

demyelinating disease

denervation of muscle

dermatomyositis

developmental milestones

developmental milestones, loss of

developmental retardation

diabetes insipidus

diabetes mellitus

diabetes mellitus, neurologic manifestations of

diabetes mellitus, ocular complications in

diabetic cranialneuropathies

diagnostic criteria

differential diagnosis

diplegia, brachial

diplopia, transient

disability, neurological

dissociated sensory loss

distal muscle atrophy

distal muscle weakness

dopamine agonist

drug abuse, inhalation

drug induced neurologic disorders

dyschromatopsia

dyskinesia, buccal lingual facial

ejection fraction

ejection fraction, abnormal

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electroencephalogram, inflammatory disease

electron microscopy

electronystagmography

electroretinograph

emergencies, neurologic

emergencies, ocular

Emery-Dreifuss muscular dystrophy

encephalitis, Japanese

encephalopathy, neonatal

encephalopathy, progressive

endarterectomy, carotid

entrapment neuropathy

enzyme, muscle disease

epidemiology of neurology

episodic neurologic deficits

erectile dysfunction

erythema migrans

erythromelalgia

evoked potentials

exercise intolerance

exome sequencing

extraocular muscle lesion

eye movement, disorders of

Fabry's disease

face, numbness of

facial appearance, abnormal

facial nerve palsy

facial nerve palsy, bilateral

facial nerve palsy, familial

facial nerve palsy, recurrent

facial weakness

facial weakness, bilateral

failure to thrive

familial rectal pain

family planning

fatal familial insomnia

fatty acid, elevated plasma content

Fazio-Londe's disease

feeding disorder

fetal alcohol syndrome

fine motor function, impaired

finger nose finger test

flaccid paralysis

flow study, carotid artery

fluorescein angiography

fracture, pathologic

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

Friedreich's ataxia

frontal lobe, pathologic signs of

fundus, abnormality of

funduscopic exam

F-wave response

galactocerebrosidase

gangliosidosis GM2

gastrointestinal disease, neurologic complications

gastrointestinal motility

genetic counselling

genetic diagnosis

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

genu of corpus callosum

giant axonal neuropathy

globus pallidus

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose tolerance test, abnormal

granulomatosis with polyangiitis

granulomatous disease

growth retardation

Guillain Barre syndrome

Guillain Barre syndrome, familial

Hallervorden Spatz disease

Hallgren's syndrome

hearing problems in children

heart block, complete

heavy metal intoxication

heel-knee-shin test

hematuria, microscopic

hemiparesis, transient

hemochromatosis

hemochromatosis, primary

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hepatic encephalopathy

hepatic failure

hepatitis C virus

hepatolenticular degeneration(Wilson's disease)

hepatosplenomegaly

heralding manifestation

hexosaminidase-A

high arched feet

Horner's syndrome

hot cross bun sign

H-reflex testing

human immunodeficiency virus type 1

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

Huntington's chorea

Hurler's syndrome

hydrocephalus, normal pressure

hydrocephalus, normal pressure in children

hydrocephalus, viral induced

hyperinsulinism

hyperostosis corticalis generalisata familiaris

hyperostosis cranialis interna

hyperthyroidism

hypertriglyceridemia

hypofibrinogenemia

hypoglossal nerve paralysis

hypopigmentation of skin

hypotension, neurologic causes of

hypotonia, infants

hypoxic encephalopathy

iatrogenic neurologic disorders

idiopathic polyneuropathy

ileus, paralytic

imbalance, postural

immunodeficiency

immunofluorescence

immunologic disease

immunosuppression

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

inborn errors of metabolism

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

infantile bilateral striatal necrosis

intellectual deficit

intellectual deterioration

internuclear ophthalmoplegia

intestinal pseudoobstruction

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracranial hypertension, benign

intracranial pressure, increased

intrinsic hand muscles, wasting of

Isaacs syndrome

Jakob-Creutzfeldt disease

Jamaica ginger paralysis

Kearns-Sayre syndrome

klippel feil syndrome

Korsakoff's psychosis

Krabbe's disease

Kugelberg-Welander syndrome

kyphoscoliosis, neurologic causes of

lactic acidemia

lacunar infarction

laminectomy, cervical

laminectomy, lumbar

Laurence-Moon-Bardet-Biedl syndrome

Leber's congenital amaurosis

Leber's hereditary optic neuropathy

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of, bilateral

leukemia, neurologic findings assoc.with

leukocyte enzyme abnormality

leukoencephalopathy

Lhermitte's sign

life expectancy

light-near dissociation, causes of

lipid storage disorder of CNS

lipomatosis, multiple symmetrical

liver transplantation

long thoracic nerve

lumbosacral plexopathy

lumbosacral plexus

lymphadenopathy

lymphoma involving CNS

lymphomatoid granulomatosis

lysosomal storage disease

lysosomes, abnoral

macular degeneration

magnetic stimulation

magnetic stimulation, brain

malformation, CNS, congenital

manic-depressive

marche a petits pas

Marcus Gunn pupil

Marinesco-Sjogren syndrome

McLeod syndrome

median neuropathy

memory, defect of recent

memory, impairment of

meningitis, aseptic

meningitis, chronic

meningoencephalopathy

mental retardation

meralgia paresthetica

metabolic acidosis

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methylhydrazine derivatives

methylmalonic aciduria

microhemorrhage, intracerebral

midbrain, atrophy

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

Minamata disease

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

molecular genetics

monoamine oxidase inhibitors

mononeuropathy multiplex

mononeuropathy, children

mononeuropathy, recurrent

motor neuron disease

movement disorder

movement disorder, extrapyramidal

MRI, brachial plexus

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, cranial nerves

MRI, diffusion tensor

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, functional

MRI, optic nerve

MRI, peripheral nerve

MRI, spinal cord

mucopolysaccharidoses

multiple endocrine neoplasia

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, familial

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle atrophy, focal

muscle atrophy, progressive

muscle diseases, characteristics of

muscle hypertrophy

muscle tenderness

muscle weakness

muscle weakness, proximal

muscle, metabolic disorders of

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, cardiovascular changes with

muscular dystrophy, congenital

muscular dystrophy, Duchenne

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

myasthenia gravis

myasthenia gravis, differential diagnosis

myasthenia gravis, familial incidence of

myasthenia gravis, misdiagnosis of

myasthenia gravis, nystagmus in

myasthenia gravis, ocular

myasthenia gravis, sensory loss with

myasthenic crisis

myelin protein zero gene

myelitis, longitudinal

myelitis, transverse

myelogram, cervical

myeloneuropathy

myelopathy, chronic progressive

myeloradiculopathy

myocardial infarction

myoclonic jerks

myoclonus, epilepsy

myopathy, alcoholic

myopathy, carcinomatous

myopathy, distal

myopathy, distal, Welander's

myopathy, mitochondrial

myopathy, thyroid disease causing

myotonia dystrophica

nausea and vomiting

neoplasm, peripheral nerve

neoplasm, primary of CNS

nerve biopsy, indication

nerve conduction studies

nerve conduction studies, motor

nerve conduction studies, sensory

nerve growth factor

nerve growth stimulating activity

nerve hypertrophy

nerve root enhancement

nerve root hypertrophy

neuraminidase deficiency

neuritis, causes of

neuroaxonal dystrophy

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurofibromatosis 1

neurofibromatosis 2

neurofibromatosis 2, presymptomatic

neurogenic bladder

neurogenic vs.myopathic atrophy

neurolipidosis IV

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination

neurologic signs

neuromuscular disease, electrodiagnosis of

neuromyelitis optica (Devic's disease)

neuromyelitis optica spectrum disorder

neuromyelitis optica, IgG

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronopathy, sensory

neuroophthalmology

neuropathology, brain

neuropathy, amyloid

neuropathy, ataxia, retinitis pigmentosa

neuropathy, ataxic

neuropathy, classification of

neuropathy, demyelinating

neuropathy, diabetic

neuropathy, etiologies of

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, motor

neuropathy, onion bulb

neuropathy, painful

neuropathy, peripheral

neuropathy, peripheral, treatment

neuropathy, recurrent

neuropathy, sensory

neuropathy, sensory, hereditary

neuropathy, vasculitic, systemic

neuropathy, work up for

neurotransmitter

next-generation sequencing

night blindness

nitrogen mustard

numbness, extremity

nutritional deficiency

nystagmus, dissociated

nystagmus, gaze-evoked

nystagmus, monocular

nystagmus, rotary

nystagmus, upbeating-in primary position of gaze

nystagmus, vertical

ocular motility, disorders of

ocular myopathy

ophthalmoplegia

ophthalmoplegia, progressive external

optic atrophy, bilateral

optic atrophy, hereditary

optic chiasm, enlarged

optic chiasm, lesion of

optic disc edema

optic foramina, abnormal

optic nerve, compression of

optic nerve, enhancement

optic nerve, enlarged

optic nerve, lesion of

optic nerve, neoplasm of

optic neuritis, bilateral

optic neuritis, treatment of

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

optic neuropathy, ischemic

optic neuropathy, toxic

optic tract, lesion of

optical coherence tomography

orthostatic hypotension

orthostatic hypotension, idiopathic

osmotic demyelination syndrome

osteosclerosis, autosomal dominant

owl's eye sign of spinal cord

pacemaker, cardiac-transvenous

pain, abdominal

palatal myoclonus

paralysis, recurrent

paraparesis, familial spastic

paraparesis, spastic

paresthesias, feet

paresthesias, lower extremity

Parkinson disease

Parkinson disease, atypical

Parkinson disease, classification

Parkinson disease, etiology of

Parkinson disease, familial

Parkinson disease, heterogeneity of

Parkinson disease, pathogenesis of

Parkinson disease, subtypes

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

paroxysmal extreme pain disorder

paroxysmal neurologic deficits

PAS positive material in the brain

patient information and support

peroneal muscle atrophy, causes of

peroneal nerve palsy

peroneal nerve, lesion of

peroxisomal disease

pheochromocytoma

photosensitivity, skin

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

poison, mercury

poison, neurologic problems with

poison, organophosphate

polyglucosan body

polyglucosan body disease

polymerase chain reaction

polyneuropathy, chronic idiopathic

polyneuropathy, chronic inflammatory demyelinating

polyneuropathy, chronic relapsing

polyneuropathy, familial

pons, lesion of

positional head-hanging test

positive sharp waves

post polio syndrome

posterior leukoencephalopathy syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

pretectal syndrome

prisoners of war, neurologic complications in

progressive neurologic disorder

propionic aciduria

proximal muscle atrophy

pseudobulbar palsy

pseudointernuclear ophthalmoplegia

pseudoretinitis pigmentosa

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychological testing, neurologic problems

psychomotor retardation

ptosis, bilateral

pulmonary function tests

pulmonary infiltrates

pupil, abnormality in neurologic disorders

pupil, dilated and fixed, bilateral

pupil, light reflex, abnormal

pupil, scalloped

pyramidal tract

pyramidal tract dysfunction

pyruvate metabolism, abnormality of

quadriplegia, transient

quality of life

radial nerve, palsy of

radiation hypersensitivity

ragged-red fibers

reading disorder, acquired

recombinant DNA

recruitment, reduced

recurrent laryngeal nerve paralysis

red free light, fundus exam with

refractive errors

Refsum's disease

remote effect of cancer on the nervous system

renal tubular acidosis

respiratory depression

respiratory failure

restless leg syndrome

retina, abnormal

retinal degeneration

retinal detachment

retinal ischemia

retinal nerve fiber layer

retinal vasculitis

retinal vasculopathy

retinal vasculopathy with cerebral leukodystrophy

retinitis pigmentosa

reversible neurologic disorder

riboflavin transporter deficiency

Riley-Day syndrome

root lesion, nerve

Roussy Levy syndrome

saccadic eye movements, abnormal

scotoma, central

sea-blue histiocytes

sedimentation rate, elevated

seizure, children

seizure, differential diagnosis of

seizure, neonatal

self-mutilation

sensorineural hearing loss

sensory ganglia

sensory ganglia, abnormal

sensory loss, truncal

sensory nerve action potentials

sensory polyneuropathy

serologic testing

serratus anterior muscle, weakness

shoulder, numbness

shoulder, pain in

Shy-Drager syndrome

sick sinus syndrome

single photon emission computed tomography

skin, darkening of

skin, lesions in neurologic disorders

skull x-ray, abnormal

sleep pathology and physiology

small vessel disease

SNCA duplication

sodium channel dysfunction

somatosensory evoked potentials

spastic diplegia

speech disorder

speech disorder, childhood

speech disorder, non aphasic

speech, loss of

Spielmeyer Vogt syndrome

spinal cord, compression of

spinal cord, lesion of

spinal cord, neoplasm

spinal cord, neoplasm, intramedullary

spinal cord, pathologic exam of

spinal muscular atrophy

spinal stenosis

spinal stenosis, familial

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 2

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 7

spinocerebellar degeneration

spinopontine atrophy, dominant

spirochete infection

splenium of corpus callosum

spongy degeneration of brain

spontaneous muscle activity

spontaneous remission

startle myoclonus

startle reaction

status epilepticus

stem cell transplantation

steroid therapy, CNS treatment and complications with

stiff man syndrome

stooped posture

striatonigral degeneration

striatonigral degeneration, infantile

striatum, lesion of

striatum, lesion of, bilateral

strokelike episodes

subarachnoid hemorrhage

subdural hematoma

substantia nigra

suprascapular neuropathy

symmetric brain lesions

systemic illness

tandem gait, ataxic

Tangier's disease

tapetoretinal degeneration

Tay-Sachs disease

thalamus, atrophy of

thalamus, lesion of

thalamus, lesion of-bilateral

third nerve palsy

thrombocytopenia

tomaculous neuropathy

tongue, enlarged

toxins, nervous system

transient neurologic deficit

treatment of neurologic disorder

tremor, cerebellar

tremor, classification

tremor, differential diagnosis of

tremor, intention

tremor, orthostatic

tremor, physiologic

tremor, post traumatic

tremor, postural

tremor, psychogenic

tremor, resting

tremor, treatment of

tremor, writing

trichopoliodystrophy

tricresylphosphate

trigeminal nerve

trigeminal nerve, hypertrophy

trigeminal nerve, lesion of

trigeminal neuralgia

trigeminal neuralgia, familial

trigeminal neuropathy

trinucleotide repeats

trochlear nerve

trochlear nerve palsy

ulnar neuropathy

ultrasonography, nerve

umbilical-cord blood transplantation

upgaze, paralysis of

urea-cycle enzymopathies

urinary incontinence

urine test for metabolic disorders

Usher's syndrome

vestibular function, tests of

vibratory sensation, abnormal

vincristine neurotoxicity

viral infection

viral infection, CNS

viral isolation

visceral neuropathy

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity, decreased

visual acuity, decreased, monocular

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss, congenital

visual loss, progressive

visual loss, slow

visual loss, sudden

visual loss, transient

vitamin deficiency

vitamin E deficiency

vitreous opacities

vocal cord paralysis

voice, abnormality of

Von Hippel Lindau

walking, difficulty with

water channel antibodies

weakness, generalized

weakness, progressive

weakness, proximal

weaning from respirator, failure to

Werdnig-Hoffman disease

Werner's syndrome

Wernicke's encephalopathy

white matter disease

white matter disease, subcortical

wide based gait

winging of scapula

Wolfram syndrome

xeroderma pigmentosa

X-linked neuropathy

Showing articles 50 to 100 of 4986 << Previous Next >>

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

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

Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007

CNS Involvement in Hereditary Neuropathy With Pressure Palsies (HNPP)
Neurol 67:2250-2252, Tackenberg,B.,et al, 2006

Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006

Finding the Causes of Inherited Neuropathies
Arch Neurol 63:812-816, Scherer,S.S., 2006

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

The Clinical Spectrum of Neuralgic Amyotrophy in 246 cases
Brain 129:438-450, Alfen, N.V. & Baziel, G.M., 2006

Hereditary Motor and Sensory Neuropathies
Peripheral Neuropathy, Dyck,P.J. & Thomas,P.K. (Ed). Elsevier Publ, Vol 2, Ch 69: 1623-1635, Shy,M.E., et al, 2005

Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies
Arch Neurol 62:1911-1914, Sanahuja,J.,et al, 2005

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

Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005

Quality of Life in Patients with Charcot-Marie-Tooth Disease
Neurol 65:922-924, Vinci,P.,et al, 2005

NT-3 Promotes Nerve Regeneration and Sensory Improvement in CMT1A Mouse Models and in Patients
Neurol 65:681-689, 662, Sahenk,Z.,et al, 2005

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

The Occurence of Guillain-Barre Syndrome Within Families
Neurol 63:1747-1750, Geleijns,K.,et al, 2004

Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004

Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004

Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004

The CNS Phenotype of X-Linked Charcot-Marie-Tooth Disease
Neurol 61:1475-1478, Taylor,R.A.,et al, 2003

Hereditary Neuropathy With Liability to Pressure Palsies Mimicking Hypoglossal Nerve Injuries
Neurol 61:1457-1458, Corwin,H.M. &Girardet,R.E., 2003

Hypoglossal Neuropathy in Hereditary Neuropathy with Liability to Pressure Palsy
Neurol 61:1154-1155, Winter,W.C. &Juel,V.C., 2003

CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003

Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002

Indications and Usefulness of Nerve Biopsy
Arch Neurol 59:1532-1535, Said,G., 2002

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

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

Clinical Spectrum of Chronic Acquired Demyelinating Polyneuropathies
Muscle & Nerve 24:311-324, Saperstein,D.S.,et al, 2001

Acute Vocal Cord Paralysis in Hereditary Neuropathy With Liability to Pressure Palsies
Neurol 56:1415, Okhoshi,N.,et al, 2001

Disability and Quality of Life in Charcot-Marie-Tooth Disease Type 1
JNNP 70:548-550, Pfeiffer,G.,et al, 2001

Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001

MR Imaging of the Cauda Equina in Hereditary Motor Sensory Neuropathies: Correlations with Sural Nerve Biopsy
AJNR 21:1793-1798,1779, Cellerini,M.,et al, 2000

Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
Neurol 55:527-532, Gilman,S. et al, 2000

Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
Neurol 54:546-551, Stogbauer,F.,et al, 2000

Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000

The Roussy-Levy Family:From the Original Description to the Gene
Ann Neurol 46:770-773, Plante-Bordeneuve,V.,et al, 1999

Hypertrophy of Multiple Cranial Nerves and Spinal Roots in Chronic Inflammatory Demyelinating Neuropathy
JNNP 67:685-687, Duarte,J.,et al, 1999

Compression of Spinal Cord and Cauda Equina in Charcot-Marie-Tooth Disease Type 1A
Neurol 52:890-891, Butefisch,C.,et al, 1999

MR Imaging of Dejerine-Sottas Disease
AJNR 20:378-380, Make,D.D.,et al, 1999

Is There a Familial Carpal Tunnel Syndrome? An Evaluation and Literature Review
Muscle & Nerve 21:1533-1536, Gossett,J.G.&Change,P.F., 1998

Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24
Ann Neurol 43:143-148, Flanigan,K.M.,et al, 1998

PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
Neurol 50:760-763, Young,P.,et al, 1998

Detection of a Varient Protein in Hair:New Diagnostic Method in Portuguese Type Familial Amyloid Polyneuropathy
BMJ 316:1500-1501, Ando,Y.,et al, 1998

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

Facial Nerve is Liable to Pressure Palsy
Neurol 51:320-322, Foloni,T.E.,et al, 1998

Optic Neuropathy
Neurol 46:315-322, Newman,N.J., 1996

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