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 50 to 100 of 2639 << Previous Next >>

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005

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

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004

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

Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001

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

Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000

Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999

Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999

Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

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

Sporadic Incusion-Body Myositis and hereditary Inclusion-Body Myopathies
Arch Neurol 55:915-920, Askanas,V.&Engel,W.K., 1998

Inclusion Body Myositis in Twins
Neurol 51:598-600, Amato,A.A.&Shebert,R.T., 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998

Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998

Calcium Channels in Neurological Disease
Ann Neurol 42:275-282, Greenberg,D.A., 1997

Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
Arch Neurol 54:1226-1229, Roses,A.D., 1997

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
Ann Neurol 41:548-551, Argov,Z.,et al, 1997

Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997

The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997

Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997

Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997

X-Linked Vacuolated Myopathy:Membrane Attack Complex Depos on Muscle Fiber Membr with Calcium Accumul on Sarcolemma
Ann Neurol 41:117-120, Louboutin,J.P.,et al, 1997

Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996

Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
Ann Neurol 40:801-804, Stajich,J.M.,et al, 1996

Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996

Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996

Practice Parameter:Genetic Testing Alert
Pract Comm Genet Testing Task Force AAN, Neurol 47:1343-13441996., , 1996

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996

Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996

Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996

Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996

Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995

Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995

Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
Ann Neurol 38:797-808, Farrer,L.A.,et al, 1995

Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995

Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995

Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995

Showing articles 50 to 100 of 2639 << Previous Next >>