Neudle.com: myopathy hereditary

Differential
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abdominal distention

abdominal muscle paralysis

abducens nerve paralysis

abiotrophy

abscess, intracranial

acanthocytosis

acid maltase deficiency

acid maltase deficiency, adult

acoustic nerve

acoustic neurinoma

acoustic neurinoma, bilateral

acromicria

acyl CoA dehydrogenase deficiency

Addison's disease

adducted thumb

adrenoleukodystrophy

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

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.

altered states of consciousness

alternative medicine

alveolar hypoventilation

Alzheimer's disease

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, preclinical

Alzheimer's disease, risk factors in

amyotrophic chorea-acanthocytosis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, differential diagnosis

amyotrophic lateral sclerosis, epidemiology of

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, guamian type of

amyotrophic lateral sclerosis, misdiagnosis

anterior horn cell disease

anterior tibial muscle weakness

anterocollis

antibodies to voltage-gated calcium channels

anticonvulsants

anticonvulsants, hypersensitivity syndrome

anticonvulsants, selection of

anticonvulsants, untoward effects of

arteriovenous malformation

arteriovenous malformation, pulmonary

arthrogryposis multiplex

Asians

asparginase

aspartate aminotransferase

ataxia telangiectasia

atrioventricular block

attention deficit disorder with hyperactivity

attention span

audiogram

auditory evoked brainstem potentials

autism

autism, screening for

autoimmune disease

automatic implantable cardioverter-defibrillator

autonomic dysfunction

Babinski sign

baldness

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

behavior

behavior, combative

behavioral disorder

benign essential tremor

blood dyscrasias, neurologic findings with

bone marrow transplantation

botulinum toxin

bovine spongiform encephalopathy

brainstem, neoplasms of

calcification, intracranial

calcium channel dysfunction

carcinoma of pancreas

cardiac arrest

cardiomegaly

cardiomyopathy

cardiovascular disease

carnitine deficiency

carnitine deficiency myopathy

CAT scan, disappearing lesion on

CAT scan, false negative

CAT scan, muscle

cataplexy

cataracts

cataracts, congenital

caudate nucleus

caudate nucleus, atrophy

central core disease

central pontine myelinolysis

cerebellar ataxia, children

cerebellar ataxia, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemangioma

cerebellum, neoplasms of

cerebral cortex

cerebral cortical atrophy

cerebral embolism

cerebral palsy

cerebro hepato renal syndrome

cerebrospinal fluid, abnormal

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, protein of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

cherry red spot-myoclonus syndrome

chewing, impaired

children

chloride channel dysfunction

chorea

chorea, familial

chromosomal abnormality

chronic progressive external ophthalmoplegia

Clinical Pathologic Conference(C.P.C.)

clubbing of fingers

clubfoot as related to neurologic disease

Coats syndrome

Cockayne's syndrome

coenzyme Q10 deficiency

cognition

collagen vascular disease

coma

complications

compression neuropathy

congenital heart disease

congenital heart disease, CNS complications with

congenital myasthenic syndromes

congenital myopathy

congestive heart failure

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

creatinuria

Creutzfeldt-Jakob disease, genetic

cultured skin fibroblasts

cyclic vomiting

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

cyst, parenchymal

cytochrome c oxidase

cytochrome c oxidase, deficiency

degenerative diseases of CNS

dementia, rapidly progressive

dementia, transmissible

demyelinating disease

dentatorubral-pallidoluysian atrophy

depression

dermatomyositis

desmin

developmental abnormality of brain

developmental disability

developmental evaluation

developmental milestones, loss of

developmental retardation

diabetes mellitus

diagnostic criteria

diamond on quadriceps

diaphragmatic paralysis

diarrhea

diet

differential diagnosis

difficulty climbing stairs

digits, abnormal

dilantin

dilantin, hypersensitivity to

diplopia

dislocated hip, congenital

distal muscle atrophy

distal muscle weakness

diurnal variation

DNA probes

dopa responsive dystonia

drooling

dropped head syndrome

drug induced neurologic disorders

dwarfism

dysarthria

dysarthria-clumsy hand syndrome

dystonia, etiology of

dystonia, painful

dystonia, post traumatic

dystonia, treatment of

dystroglycanopathies

dystrophin

dystrophin associated proteins

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, classification

ejection fraction

ejection fraction, abnormal

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electroencephalogram, periodic complexes

electromyogram

electron microscopy

electronystagmography

electroretinograph

embolism, paradoxical

embolism, septic

Emery-Dreifuss muscular dystrophy

encephalopathy

encephalopathy, anoxic

encephalopathy, neonatal

encephalopathy, progressive

enzyme treatment

enzyme, defect

enzyme, muscle disease

enzyme, serum

epidemiology of neurology

exercise-induced neurologic dysfunction

extraocular muscle lesion

eye movement, disorders of

Fabry's disease

facial anomalies

facial appearance, abnormal

facial nerve palsy, bilateral

facial pain

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

familial hemiplegic migraine

family planning

fasciculation

fatigue

fatty acid, elevated plasma content

Fazio-Londe's disease

feeding disorder

fetal alcohol syndrome

fine motor function, impaired

fistula, arterio-venous, pulmonary

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

frontal balding

fundus, abnormality of

gastrocnemius muscle weakness

gastrointestinal bleeding

gastrointestinal disease, neurologic complications

gastrointestinal motility

gastroparesis

Gaucher's disease

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

glaucoma

glucocerebrosidase

glycogen storage disease

growth hormone deficiency

Guillain Barre syndrome

gynecomastia

Hallervorden Spatz disease

heart block, complete

heart murmur

heavy metal intoxication

hemangioblastoma

hematuria, gross

hemianopia, homonymous

hemidiaphragm, paralysis of

hemoptysis

hemorrhagic diathesis

hepatic encephalopathy

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

hereditary myopathy with early respiratory failure

herpes simplex encephalitis

herpes simplex encephalitis, differential diagnosis of

histochemistry of muscle

HLA

hormone replacement

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, presymptomatic detection of

Hurler's syndrome

hydrocephalus

hydrocephalus, congenital

hydrocephalus, fetal

hydrocephalus, intrauterine

hypercapnia

hyperkalemia

hyperkalemic periodic paralysis

hyperphagia

hyperreflexia

hypersensitivity reaction

hypertelorism

hyperthyroidism

hypertrophic cardiomyopathy

hypokalemic periodic paralysis

hyponatremia

hypopigmentation of skin

hypoxic encephalopathy

iatrogenic neurologic disorders

immunology and the nervous system

impotence

impulsivity

inability to sit up

inability to stand on tiptoes

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

inattention

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion body myositis

intellectual deterioration

intestinal pseudoobstruction

intracerebral hemorrhage

intracranial pressure, increased

intrauterine infection

intrinsic hand muscles, wasting of

irritability

ischemic exercise test

isoniazid

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, variant

Kearns-Sayre syndrome

keratoconus

ketamine

klippel feil syndrome

Korsakoff's psychosis

Kugelberg-Welander syndrome

kyphoscoliosis, neurologic causes of

kyphosis

lactate

lactic acidemia

lactic dehydrogenase(LDH)

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

Leber's hereditary optic neuropathy

leg spasms

leg spasms, painful

leg weakness, bilateral

leg weakness, unilateral

Leigh's disease

lens, dislocation of

leukemia, neurologic findings assoc.with

leukocyte enzyme abnormality

leukocytes

leukodystrophy

leukoencephalopathy

lid closure, weakness of

life expectancy

limb-girdle weakness

linear lesion

lipid storage disorder of CNS

lipid storage myopathy

Lisch nodules

lissencephaly

liver disease

liver function enzymes

lymphocyte capping, diminished

lysosomal storage disease

lysosomes, abnoral

macular degeneration

magnetoencephalography

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malignant hyperpyrexia

masked facies

McArdle's disease

McLeod syndrome

medical-legal aspects of neurology

MELAS syndrome

meningismus

meningoencephalopathy

mental retardation

mental retardation, familial

merosin

MERRF syndrome

metabolic acidosis

metabolic disorder, primary

methotrexate

methylhydrazine derivatives

mexiletine

microcephaly

micrognathia

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

migraine

migraine, hemiplegic

Miller-Dieker syndrome

mimics

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

mitral valve prolapse

MNGIE syndrome

molecular genetics

molybdenum cofactor deficiency

monoamine oxidase inhibitors

movement disorder, extrapyramidal

MRI

MRI pattern

MRI, abnormal

MRI, contrast enhanced

MRI, diffusion tensor

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, functional

MRI, muscle

MRI, serial

MRI, susceptibility weighted

mucopolysaccharidoses

multicore myopathy

multiminicore disease

multiple sclerosis, misdiagnosis

muscle atrophy, progressive

muscle atrophy, static

muscle biopsy

muscle cramp

muscle diseases, characteristics of

muscle hypertrophy

muscle pain

muscle phosphorylase deficiency

muscle stiffness

muscle tenderness

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscle weakness, sudden onset of

muscle, metabolic disorders of

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, Becker, carrier

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, congenital, Fukuyama type

muscular dystrophy, differential diagnosis of

muscular dystrophy, distal, Miyoshi

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, dystrophin normal

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

muscular dystrophy, lymphocyte capping, diminished

muscular dystrophy, neurogenic hypothesis of

muscular dystrophy, pattern of muscle involvement

muscular dystrophy, systemic membrane defect

myasthenia gravis

myasthenia gravis, congenital

myasthenia gravis, differential diagnosis

myasthenia gravis, distal weakness

myasthenia gravis, familial incidence of

myasthenia gravis, limb-girdle

myasthenia gravis, misdiagnosis of

myasthenia gravis, neuromuscular junction in

myasthenia gravis, receptor site in

myasthenia gravis, seronegative

myoclonus, stimulus sensitive

myopathy, carcinomatous

myopathy, centronuclear

myopathy, desmin

myopathy, distal

myopathy, distal Laing

myopathy, distal, vacuolar

myopathy, distal, Welander's

myopathy, genetic

myopathy, hereditary

myopathy, inclusion body

myopathy, inclusion body, hereditary

myopathy, metabolic

myopathy, mitochondrial

myopathy, myofibrillar

myopathy, necrotizing

myopathy, proximal

myopathy, quadriceps

myopathy, thyroid disease causing

myotonia dystrophica, classification

nemaline rod myopathy

nemaline rod myopathy, adult onset

neoplasm, metastatic to CNS

neoplasm, primary intracranial

neoplasm, primary of CNS

neoplasm, primary of CNS-surgical treatment of

nerve conduction studies

neurofibrillary degeneration

neurofibromatosis 1

neurofibromatosis 2

neurofibromatosis 2, presymptomatic

neurogenic vs.myopathic atrophy

neurologic complications of, surgery

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination, focal

neurologic signs

neuromuscular blockade

neuromuscular disease, electrodiagnosis of

neuromuscular junction

neuromuscular junction, abnormality of

neuronal ceroid-lipofuscinosis

neuronal migration disorder

neuropathy, ataxia, retinitis pigmentosa

neuropathy, diabetic

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, peripheral

neurosis

neurotoxin

newborn, evaluation of

next-generation sequencing

obsessive-compulsive disorder

ocular motility, disorders of

ocular myopathy

oculopharyngeal muscular dystrophy

old age, neurology of

ophthalmoplegia

ophthalmoplegia, progressive external

optic atrophy

optic atrophy, hereditary

optic disc edema

optic nerve

optic nerve, compression of

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

orthopnea

orthostatic hypotension

pacemaker, cardiac-transvenous

paralysis, acute areflexic

paramyotonia congenita

paraparesis

paraparesis, familial spastic

paraparesis, spastic

paraspinal muscle

paraspinal muscle weakness

paresthesias

Parkinson disease

Parkinsonism syndrome

paroxysmal neurologic deficits

PAS positive

patient information and support

pectus excavatum

percussion induced muscle contraction

periodic paralysis

periodic paralysis, thyrotoxic

phosphorylase b kinase deficiency

pigmentary retinopathy

pituitary, hormones of

pleocytosis of cerebrospinal fluid

pneumonia

poison, mercury

poison, neurologic problems with

polymerase chain reaction

polymyositis

polyneuropathy

polyneuropathy, chronic inflammatory demyelinating

polyneuropathy, familial

Pompe's disease of glycogen storage

potassium channel antibodies

potassium channel dysfunction

practice guidelines

Prader-Labhart-Willi syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

presenilin-1 gene

presenilin-2 gene

prevention of neurologic disorders

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

prostigmine

protein 14-3-3, cerebrospinal fluid

proteinuria

proximal muscle atrophy

proximal myotonic myopathy

pseudomyasthenia

pseudomyotonia

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

pulmonary hypertension

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

radiculopathy

ragged-red fibers

rapidly progressing neurologic illness

rash

real-time quaking-induced conversion

repetitive nerve stimulation

research

respirator

respiratory depression

reversible neurologic disorder

review article

RFLPs

rhabdomyolysis

rhabdomyosarcoma of heart

riboflavin

rigid spine syndrome

rigidity

rippling muscle disease

risk factors

Romberg's sign

saccadic eye movements, abnormal

scoliosis, neurologic association with

screaming

screening

second wind phenomena

seizure

seizure, children

seizure, familial

seizure, injury following

seizure, intractable

seizure, neonatal

seizure, paradoxical

seizure, treatment of

self-mutilation

sensorineural hearing loss

single photon emission computed tomography

skin, biopsy

skin, darkening of

skin, hyperextensible

skin, lesions in neurologic disorders

skin, thin

skin, translucent

skull x-ray, abnormal

slit lamp examination

sloped shoulders

SMN1 gene

socialisation

sodium channel dysfunction

sore throat

spasticity

speech disorder

speech, delayed development of

sphingolipodoses

Spielmeyer Vogt syndrome

spinal cord, neoplasm

spinal cord, vascular malformation of

spinal muscular atrophy

spinal muscular atrophy, adult onset

spinal muscular atrophy, classification

spinal muscular atrophy, intermediate form

spinocerebellar ataxia

spinocerebellar ataxia type 2

spinocerebellar ataxia type 6

spinocerebellar degeneration

splenomegaly

spongy degeneration of brain

standing difficulty

steppage gait

stereotaxic surgery

stereotyped behavior, drug induced

steroid

steroid therapy, CNS treatment and complications with

subarachnoid hemorrhage

subependymal nodules

succinate dehydrogenase deficiency

suck, poor

sudden death

survival motor neuron gene

symmetric brain lesions

syncope

systemic illness

systemic lupus erythematosus

tandem gait, ataxic

tapetoretinal degeneration

Tay-Sachs disease

telangiectases

telangiectases, retinal

temper tantrums

temporal lobe, lesion

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

term infant

testicular atrophy

testicular enlargement

thalamus, lesion of-bilateral

thiamine

thymoma

thyroid function tests

thyrotoxicosis

tic

tinnitus

tissue plasminogen activator, intravenous

tongue, fasciculations of

tongue, protrusion of

tongue, weakness

torticollis

torticollis, post traumatic

transverse smile

trauma

treatment of neurologic disorder

trinucleotide repeats

tuberin

tuberous sclerosis

tuberous sclerosis, screening for

twins

type 1 muscle fiber

Unverricht-Lundborg disease

very long chain fatty acids

vinblastine

vincristine neurotoxicity

visceral neuropathy

vision, failure of in childhood

visual acuity, decreased

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, progressive

walking, difficulty with

weakness, fluctuating

weakness, focal

weakness, generalized

weakness, progressive

weakness, proximal

weaning from respirator, failure to

web sites

weight loss

Werdnig-Hoffman disease

Wernicke's encephalopathy

Western immunoblot test

wheelchair

white matter disease

white matter disease, pattern

X-linked bulbospinal neuronopathy

x-linked hydrocephalus

x-linked mental retardation

X-linked myopathy

x-linked myopathy with excessive autophagy

Showing articles 300 to 350 of 2639 << Previous Next >>

Duchenne Muscular Dystrophy
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A 59-year-old Woman with Multiple Myeloma and Lower Extremity Weakness and Numbness
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Severe Neurological Toxicity of Immune Checkpoint Inhibitors: Growing Spectrum
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When the Temporal Artery Biopsy is Negative
Neurologist 25:70-72, Ford, E. & Smith, J.H., 2020

Sudden and Complete Olfactory Loss Function as a Possible Symptom of COVID-19
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Neurologic Complications of Coronavirus Infections
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Liver Transplantation as a Rescue Therapy for Severe Neurologic Forms of Wilson Disease
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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The Spectrum of Neurologic Disease in the Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic Infection
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Teleneurology
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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A 53-year-old Woman with Lower Extremity Paresthesias
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Neuropathological Features of Covid-19
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Severe Neurological Toxicity of Immune Checkpoint Inhibitors: Growing Spectrum
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COVID-19: A Global Threat to the Nervous System
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Complex Ataxia
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Pediatric Leigh Syndrome
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Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
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Telemedicine in Neurology
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Acetylcholine Receptor-Antibody-Positive Myasthenia Gravis Presenting with Early Atrophy and Nonfluctuating Weakness of Proximal Limb Muscles
J Clin Neurol 16:714-716, Pancheri, E.,et al, 2020

Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020

Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019

Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Three-year Follow-up of Prospective Trial of Focused Ultrasound Thalamotomy for Essential Tremor
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Leg Weakness and Stiffness at the Emergency Room
Neurol 92:e622-e625, af Edholm, K.,et al, 2019

Fibromuscular Dysplasia and Its Neurologic Manifestations
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Recurrent Epistaxis in an Adolescent
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Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
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When MRI is a Clue in Episodic Ataxia
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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MR Imaging of the Brain in Neurologic Wilson Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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A Teenager with Persistent Headache
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Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
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Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019

Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Pterygoid Myositis Mimicking Giant Cell Arteritis
Neurol 92:e2297, Na, S.,et al, 2019

Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
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Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019

A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019

Showing articles 300 to 350 of 2639 << Previous Next >>