Neudle.com: "hereditary neuropathy"

Differential
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abdominal cramps

abdominal distention

abducens nerve paralysis

acoustic nerve, vestibular division of

acral sensory symptoms

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult polyglucosan body disease

advances in neurology

adverse drug reaction

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

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

Alzheimer's disease

Alzheimer's disease, familial

amyloid angiopathy, cerebral

amyloidosis

amyloidosis, oculoleptomeningeal, familial

amyotrophic chorea-acanthocytosis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, epidemiology of

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, guamian type of

anterior interosseous neuropathy

anterior tibial muscle weakness

apnea, primary central

apraxia

apraxia of eye movements

areflexia

arm atrophy

arm weakness

Arnold Chiari malformation

arthrogryposis multiplex

arthropathy

arthropathy, neuropathic

ataxia telangiectasia

atherosclerosis, premature

atonic bladder

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

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

blood dyscrasias, neurologic findings with

bone density

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, dysfunction

brainstem, infarction of

brainstem, lesion of

Brown-Vialetto-Van Laere syndrome

bulbar palsy

bulbar palsy, childhood

bulbar palsy, progressive

calcification, intracranial

caloric testing

Canavan's disease

carbamazepine

carbon monoxide poisoning

carbonic anhydrase II deficiency

carcinoembryonic antigen

carpal tunnel syndrome

CAT scan, base of skull

CAT scan, emission, abnormal

CAT scan, false negative

CAT scan, metrizamide

CAT scan, myelogram with

cataracts

cataracts, congenital

cauda equina

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

cerebral edema, vasogenic

cerebral infarction

cerebral infarction, subcortical

cerebral palsy

cerebral vasculature

cerebral venous thrombosis

cerebral venous thrombosis, deep

cerebritis

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

chromosomal abnormality

chronic progressive external ophthalmoplegia

cingulate island sign

cirrhosis

cirrhosis, infancy

cisternogram, radionuclide

claudication, intermittent of cauda equina

cleft palate

Clinical Pathologic Conference(C.P.C.)

clonus

clubbing of fingers

clubfoot as related to neurologic disease

coat-hanger pain

Cockayne's syndrome

coenzyme Q10 deficiency

color vision, impaired

coma

compression fracture

compression neuropathy

compression neuropathy, recurrent

congestive heart failure

corpus callosum, hypoplastic

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cough

cranial nerve enhancement

cranial nerve enlargement

cranial nerve palsies

cranial nerve palsies, familial

cranial nerve palsies, recurrent

cranial nerve tumor

cranial nerves

cranial neuropathy

cranial neuropathy, multiple

craniopharyngioma

creatine phosphokinase(CPK)elevated

cry, weak

crying

cryopyrin-associated periodic syndrome

cryptorchidism

Cuba

cultured skin fibroblasts

cyanide poison

cytochrome c oxidase

cytochrome c oxidase, deficiency

deafmute

deafness

deafness, bilateral progressive vs.unilateral acute

deafness, unilateral

deep gray nuclei

deep tendon reflexes

degenerative diseases of CNS

Dejerine-Sottas syndrome

dementia

dementia, childhood

dementia, familial

dementia, rapidly progressive

dementia, thalamic

demyelinating disease

denervation of muscle

dermatitis

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

diarrhea

differential diagnosis

diplegia, brachial

diplopia

diplopia, transient

disability, neurological

dissociated sensory loss

distal muscle atrophy

distal muscle weakness

drug abuse, inhalation

drug induced neurologic disorders

dwarfism

dysarthria

dyschromatopsia

dyskinesia, buccal lingual facial

ejection fraction, abnormal

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electroencephalogram, inflammatory disease

electromyogram

electron microscopy

electronystagmography

electroretinograph

ELISA

emergencies, neurologic

emergencies, ocular

Emery-Dreifuss muscular dystrophy

empty sella

encephalitis

encephalitis, Japanese

encephalopathy

encephalopathy, neonatal

encephalopathy, progressive

endarterectomy, carotid

enophthalmous

entrapment neuropathy

enzyme, defect

enzyme, muscle disease

ependymoma

epidemiology of neurology

episodic neurologic deficits

extraocular muscle lesion

eye injury

eye movement, disorders of

facial appearance, abnormal

facial nerve palsy

facial nerve palsy, bilateral

facial nerve palsy, familial

facial nerve palsy, recurrent

facial pain

facial weakness

facial weakness, bilateral

fatal familial insomnia

fatigue

fatty acid, elevated plasma content

Fazio-Londe's disease

feeding disorder

fetal alcohol syndrome

fever

fibrillations

fine motor function, impaired

finger nose finger test

flaccid paralysis

flavivirus

flow study, carotid artery

flunarizine

fluorescein angiography

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

frataxin

Friedreich's ataxia

frontal lobe, pathologic signs of

fundus, abnormality of

gastrointestinal disease, neurologic complications

gastrointestinal motility

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

genu of corpus callosum

GFAP gene

giant axonal neuropathy

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose tolerance test, abnormal

glutamic acid

granulomatosis with polyangiitis

granulomatous disease

growth retardation

Guillain Barre syndrome

Guillain Barre syndrome, familial

hair analysis

Hallervorden Spatz disease

hearing problems in children

heart block

heart block, complete

heavy metal intoxication

heel-knee-shin test

hematuria, microscopic

hemianopia

hemiparesis

hemiparesis, transient

hemiplegia

hemochromatosis

hemochromatosis, primary

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hepatic encephalopathy

hepatic failure

hepatitis

hepatitis C virus

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

hepatosplenomegaly

heralding manifestation

human immunodeficiency virus type 1

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

Huntington's chorea

Hurler's syndrome

hydrocephalus

hydrocephalus, normal pressure

hydrocephalus, normal pressure in children

hydrocephalus, viral induced

hyperostosis corticalis generalisata familiaris

hyperostosis cranialis interna

hypoglossal nerve paralysis

hypoglycemia

hypogonadism

hyponatremia

hypopigmentation of skin

hyporeflexia

hyposmia

hypotelorism

hypotension, neurologic causes of

hypotonia

hypotonia, infants

hypoxia

hypoxic encephalopathy

iatrogenic neurologic disorders

idiopathic polyneuropathy

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

inattention

inborn errors of metabolism

incidence

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

incoordination

infantile bilateral striatal necrosis

intellectual deterioration

internuclear ophthalmoplegia

intestinal pseudoobstruction

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracranial hypertension, benign

intracranial pressure, increased

intrauterine

intrinsic hand muscles, wasting of

Jakob-Creutzfeldt disease

Jamaica ginger paralysis

jaw pain

Jewish

karyotyping

Kearns-Sayre syndrome

keratitis

keratoconus

klippel feil syndrome

konzo

Korsakoff's psychosis

Krabbe's disease

Kugelberg-Welander syndrome

kyphoscoliosis, neurologic causes of

kyphosis

lactic acidemia

lacunar infarction

laminectomy, cervical

laminectomy, lumbar

laminopathies

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

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

leprosy

leukemia

leukemia, neurologic findings assoc.with

leukocyte enzyme abnormality

light-near dissociation, causes of

lip, biting

lipid storage disorder of CNS

lipomatosis

lipomatosis, multiple symmetrical

liver disease

liver transplantation

LMNA gene

long thoracic nerve

lumbosacral plexopathy

lymphoma involving CNS

lymphomatoid granulomatosis

lysosomal storage disease

magnetic stimulation, brain

malformation, CNS, congenital

manic-depressive

marche a petits pas

Marcus Gunn pupil

Marinesco-Sjogren syndrome

memory, defect of recent

memory, impairment of

meningoencephalopathy

mental retardation

meralgia paresthetica

MERRF syndrome

metabolic acidosis

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methotrexate

methylhydrazine derivatives

methylmalonic aciduria

microcephaly

microhemorrhage, intracerebral

midbrain, atrophy

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

migraine

Minamata disease

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoamine oxidase inhibitors

mononeuropathy

mononeuropathy multiplex

mononeuropathy, children

mononeuropathy, recurrent

movement disorder, extrapyramidal

MRI

MRI, abnormal

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

MRI, spine

MRS

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 biopsy

muscle cramp

muscle culture

muscle diseases, characteristics of

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

myelitis, longitudinal

myelopathy, chronic progressive

myeloradiculopathy

myocardial infarction

myopathy, carcinomatous

myopathy, distal

myopathy, distal, Welander's

myopathy, mitochondrial

myopathy, thyroid disease causing

neoplasm, peripheral nerve

neoplasm, primary of CNS

nerve biopsy

nerve biopsy, indication

nerve conduction studies

nerve conduction studies, motor

nerve conduction studies, sensory

nerve culture

nerve growth factor

nerve growth stimulating activity

nerve hypertrophy

nerve root enhancement

nerve root hypertrophy

neuraminidase deficiency

neuritis

neuritis, causes of

neuroaxonal dystrophy

neuroblastoma

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurofibroma

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

neuroma

neuromuscular disease, electrodiagnosis of

neuromyelitis optica (Devic's disease)

neuromyelitis optica spectrum disorder

neuromyelitis optica, IgG

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

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

next-generation sequencing

nutritional deficiency

nystagmus

nystagmus, dissociated

nystagmus, gaze-evoked

nystagmus, monocular

nystagmus, rotary

nystagmus, upbeating-in primary position of gaze

nystagmus, vertical

obesity

ocular motility, disorders of

ocular myopathy

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic atrophy

optic atrophy, bilateral

optic atrophy, hereditary

optic chiasm

optic chiasm, enlarged

optic chiasm, lesion of

optic disc cup

optic disc edema

optic foramina

optic foramina, abnormal

optic glioma

optic nerve

optic nerve, compression of

optic nerve, enhancement

optic nerve, enlarged

optic nerve, lesion of

optic nerve, neoplasm of

optic neuritis

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

orchitis

orthostatic hypotension

orthostatic hypotension, idiopathic

osmotic demyelination syndrome

osteopetrosis

osteoporosis

osteosclerosis, autosomal dominant

owl's eye sign of spinal cord

pacemaker, cardiac-transvenous

paraparesis, familial spastic

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

past pointing

pathology

patient information and support

pericarditis

peroneal muscle atrophy, causes of

peroneal nerve

peroneal nerve palsy

peroneal nerve, lesion of

photosensitivity, skin

phytanic acid

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pneumonia

poison, mercury

poison, neurologic problems with

poison, organophosphate

polyglucosan body disease

polymerase chain reaction

polymyositis

polyneuropathy

polyneuropathy, chronic idiopathic

polyneuropathy, chronic inflammatory demyelinating

polyneuropathy, chronic relapsing

polyneuropathy, familial

pons, atrophy

pons, lesion of

porphyria

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

prion disease

prisoners of war, neurologic complications in

progressive neurologic disorder

propionic aciduria

proptosis

proteinuria

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

pulmonary function tests

pulmonary infiltrates

pupil

pupil, abnormality in neurologic disorders

pupil, dilated and fixed, bilateral

pupil, light reflex, abnormal

pyramidal tract dysfunction

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

quadriplegia, transient

quality of life

radial nerve, palsy of

radiation hypersensitivity

radiculopathy

ragged-red fibers

rash

reading disorder, acquired

recurrent laryngeal nerve paralysis

red free light

red free light, fundus exam with

refractive errors

Refsum's disease

remote effect of cancer on the nervous system

renal failure

renal tubular acidosis

respiratory depression

respiratory failure

restless leg syndrome

retinal nerve fiber layer

retinal vasculitis

retinal vasculopathy

retinal vasculopathy with cerebral leukodystrophy

reversible neurologic disorder

review article

RFLPs

riboflavin transporter deficiency

saccadic eye movements, abnormal

sedimentation rate, elevated

seizure

seizure, children

seizure, differential diagnosis of

seizure, neonatal

self-mutilation

sensorineural hearing loss

sensory ganglia

sensory ganglia, abnormal

sensory loss

sensory loss, truncal

sensory nerve action potentials

sensory polyneuropathy

serologic testing

serratus anterior muscle, weakness

single photon emission computed tomography

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

skull x-ray, abnormal

sleep

sleep apnea

sleep pathology and physiology

small vessel disease

SNCA duplication

sodium channel dysfunction

somatosensory evoked potentials

speech disorder, childhood

speech disorder, non aphasic

speech, loss of

Spielmeyer Vogt syndrome

spinal cord

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

splenomegaly

spongy degeneration of brain

spontaneous muscle activity

spontaneous remission

startle myoclonus

startle reaction

status epilepticus

stem cell transplantation

steppage gait

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

stuporous

subarachnoid hemorrhage

subdural hematoma

substantia nigra

sudden death

suprascapular neuropathy

sural nerve

symmetric brain lesions

tapetoretinal degeneration

thalamus, lesion of-bilateral

tomaculous neuropathy

toxins, nervous system

transient neurologic deficit

trauma

treatment of neurologic disorder

tremor

tremor, cerebellar

tremor, classification

tremor, differential diagnosis of

tremor, intention

tremor, orthostatic

tremor, physiologic

tremor, post traumatic

trigeminal nerve, hypertrophy

trigeminal nerve, lesion of

trigeminal neuralgia

trigeminal neuralgia, familial

trigeminal neuropathy

trinucleotide repeats

trochlear nerve

trochlear nerve palsy

tyrosine

tyrosinemia

ulnar neuropathy

ultrasonography, nerve

umbilical-cord blood transplantation

upgaze, paralysis of

urea-cycle enzymopathies

urinary incontinence

urine test for metabolic disorders

Usher's syndrome

uveitis

vertigo

vestibular function, tests of

vestibulopathy

vibratory sensation, abnormal

vinblastine

vincristine neurotoxicity

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity

visual acuity, decreased

visual acuity, decreased, monocular

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, congenital

visual loss, progressive

visual loss, slow

visual loss, sudden

visual loss, transient

voice, abnormality of

Von Hippel Lindau

walking frame

walking, difficulty with

war

water channel antibodies

weakness

weakness, generalized

weakness, progressive

weakness, proximal

weaning from respirator, failure to

web sites

weight loss

Werdnig-Hoffman disease

Werner's syndrome

Wernicke's encephalopathy

wheelchair

white matter disease

white matter disease, subcortical

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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
Adams & Victors Principles of Neurology, Chp 37, pg 959, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Fabry Disease
Adams & Victors Principles of Neurology, Chp 37, pg 991, Ropper, A.H.,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

Clinical Features of MS Associated with Leber Hereditary Optic Neuropathy mtDNA Mutations
Neurol 81:2073-2081, Pfeffer, G.,et al, 2013

Chiasmal Enlargement and Enhancement in Leber Hereditary Optic Neuropathy
Neurol 81:e126-e127, Ong, E.,et al, 2013

A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012

Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012

Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011

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

Clinical Reasoning: A 34-Year-Old Woman with Recurrent Bouts of Acral Paresthesias
Neurol 74:775-778, Karam,C. &Scelsa,S., 2010

Familial Neuromyelitis Optica
Neurol 75:310-315, Matiello,M., et al, 2010

Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010

Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009

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