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Differential
(Click to cross reference)
acquired immunodeficiency syndrome
Alexanders disease
algorithm
Alzheimer's disease
Alzheimer's disease, familial
amniocentesis
anemia
anemia, hemolytic
arrhythmia, cardiac
basal ganglia, degeneration
basal ganglia, lesion of
blindness
brainstem, lesion of
carcinoma
cerebellar lesion
cerebellum, neoplasms of
Charcot-Marie-Tooth
chromosomal abnormality
chromosome 11
chromosome 9
creatine phosphokinase(CPK)elevated
cryptococcal meningitis
cyst, neoplastic cerebellum
dentate nuclei
dentate nuclei, lesion of
developmental retardation
DNA probes
dysmorphic
dystonia
dystonia musculorum deformens
dystrophin
familial
gadolinium
gene
gene mutation
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
hemangioblastoma
hepatic failure
hepatolenticular degeneration(Wilson's disease)
hepatolenticular degeneration(Wilson's disease), presymptomatic
hepatosplenomegaly
Hunter's syndrome
Huntington's chorea
Huntington's chorea, genetic counselling
Huntington's chorea, presymptomatic detection of
hypotonia
hypotonia, infants
immunohistochemistry
inclusion bodies, intracytopasmic
Leber's hereditary optic neuropathy
leukocytes
leukodystrophy
leukoencephalopathy
macrocephaly
manic-depressive
McArdle's disease
meningitis
meningitis, recurrent
meningitis, relapse
misdiagnosis
mitochondrial disease
mitochondrial encephalomyopathy
molecular genetics
mortality
motor neuron disease
MRI
MRI, abnormal
MRI, contrast enhanced
mucopolysaccharidoses
mucopolysacchariduria
muscle biopsy
muscle phosphorylase deficiency
muscular dystrophy
muscular dystrophy, Becker
muscular dystrophy, Becker, carrier
muscular dystrophy, differential diagnosis of
muscular dystrophy, Duchenne
muscular dystrophy, Duchenne, carrier
muscular dystrophy, limb-girdle
myotonia dystrophica
neoplasm, metastatic to CNS
neoplasm, posterior fossa
neurofibromatosis 1
neurofibromatosis 2
neurologic disease, diagnoses of
neuropathy, amyloid
optic atrophy, hereditary
optic neuropathy
optic neuropathy, hereditary
pheochromocytoma
polymerase chain reaction
posterior fossa, lesion of
prenatal diagnosis by amniocentesis
prognosis
recombinant DNA
recurrent
renal cell carcinoma
retinal degeneration
retinal hemangioma
review article
RFLPs
Rosenthal fibers
spinal cord
spinal cord, lesion of
spinal muscular atrophy
spine, metastasis to
treatment of neurologic disorder
visual acuity, decreased
visual loss
Von Hippel Lindau
Von Hippel Lindau, carrier
Von Hippel Lindau, screening protocol for
Western immunoblot test
white matter disease
Showing articles 0 to 23 of 23

Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994

Persistence of Initial Infection in Recurrent Cryptococcus Neuformans Meningitis
Lancet 341:595-596, Spitzer,E.D.,et al, 1993

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992

Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992

Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992

Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990

Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
Neurol 40:1450-1453, Defesche,J.C.,et al, 1990

Dystrophin Analysis in Duchenne & Becker Muscular Dystrophy Carriers:Correl with Intracellular Calcium & Albumin
Ann Neurol 28:674-679, Morandi,L.,et al, 1990

Homing in on Wilson's Disease
Editorial, Lancet 1:822-8231989., , 1989

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989

Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
NEJM 318:535-542, Meissen,G.J.,et al, 1988

Prenatal Testing for Duchenne & Becker Muscular Dystrophy
Lancet 1:262-266, Cole,C.G.,et al, 1988

The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988

Genetic Linkage in Neurologic Diseases
Editorial, NEJM 316:1018-10201987., Martin,J.B., 1987

Prenatal Diagnosis & Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
NEJM 316:985-993, 1018-10201987., Darras,B.T.,et al, 1987



Showing articles 0 to 23 of 23