Results 291 to 300 of about 736,700 (337)

Migraine with aura and white matter abnormalities: Notch3 mutation

Neurology, 2000
The authors report on an Italian family with eight affected members who show autosomal dominant migraine with prolonged visual, sensory, motor, and aphasic aura. These symptoms are associated with white matter abnormalities on brain MRI. All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant ...
CERONI, MAURO, POLONI TE, TONIETTI S, FABOZZI D, UGGETTI C, FREDIANI F, SIMONETTI F, MALASPINA A, ALIMONTI D, CELANO M, FERRARI M, CARRERA P.   +11 more
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White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations

Neurobiology of Aging, 2016
No study but one has suggested the presence of white matter hyperintensities (WMHs) in frontotemporal dementia (FTD), limited to 4 cases carrying pathogenic Granulin (GRN) gene mutations. We investigated the presence of WMHs in a cohort of 14 FTD patients with pathogenic GRN mutations (GRN+), 28 patients without GRN mutations (GRN-) and 18 healthy ...
Paternicò, D, Premi, E, Gazzina, S, Cosseddu, M, Alberici, A, Archetti, S, Cotelli, Ms, Micheli, A, Turla, M, GASPAROTTI, Roberto, PADOVANI, Alessandro, BORRONI, Barbara   +11 more
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Microstructural white matter changes in carriers of the DYT1 gene mutation

Annals of Neurology, 2004
AbstractWe tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex. We used diffusion tensor magnetic resonance imaging (DTI) to assess the microstructure of white matter pathways in mutation carriers and control subjects.
Maren, Carbon, Peter B, Kingsley, Sherwin, Su, Gwenn S, Smith, Phoebe, Spetsieris, Susan, Bressman, David, Eidelberg   +6 more
openaire   +2 more sources

White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations

Movement Disorders, 2013
ABSTRACTGlucocerebrosidase gene mutations represent a genetic risk factor for the development of Parkinson's disease. This study investigated brain alterations in Parkinson's disease patients carrying heterozygous glucocerebrosidase gene mutations using structural and diffusion tensor magnetic resonance imaging.
Agosta F, Kostic VS, Davidovic K, Kresojević N, Sarro L, Svetel M, Stanković I, Comi G, Klein C, Filippi M   +9 more
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The Anopheles albimanus white gene: molecular characterization of the gene and a spontaneous white gene mutation

Genetica, 1997
We have cloned and characterized the white gene of Anopheles albimanus. Comparison of the deduced amino acid sequence of this white gene with its homologs from six species of Diptera show that the An. albimanus gene is most similar to the white gene of An. gambiae (92% identity). A spontaneous white-eyed mutant An.
Z, Ke, M Q, Benedict, A J, Cornel, N J, Besansky, F H, Collins   +4 more
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White skin: a Z-linked recessive mutation in the fowl

Journal of Heredity, 1981
A 6-week-old pullet was noted with white shanks and beak from a strain of SC White Leghorns, pedigree-bred as a closed flock since 1948. Mating of the mutant to males with yellow skin produced only yellow skinned progeny. The F2 progeny consisted of equal numbers of yellow or white shanked pullets and yellow shanked sons.
openaire   +2 more sources

White Band, a New Spotting Mutation in the Syrian Hamster

Nature, 1960
THE first mutation reported in the Syrian hamster, Mesocricetus auratus, was a recessive type of white spotting which has been designated as piebald1. The new mutation to be described here differs from piebald in two respects : (1) the mutation is inherited as a dominant to normal pigmentation ; and (2) the characteristic spotting pattern produced by ...
openaire   +2 more sources

Prevalence of BRCA1 Mutation Carriers among U.S. Non-Hispanic Whites

Cancer Epidemiology, Biomarkers & Prevention, 2004
Abstract Data from several countries indicate that 1% to 2% of Ashkenazi Jews carry a pathogenic ancestral mutation of the tumor suppressor gene BRCA1. However, the prevalence of BRCA1 mutations among non-Ashkenazi Whites is uncertain. We estimated mutation carrier prevalence in U.S.
Alice S, Whittemore, Gail, Gong, Esther M, John, Valerie, McGuire, Frederick P, Li, Kimberly L, Ostrow, Richard, Dicioccio, Anna, Felberg, Dee W, West   +8 more
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White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Neuromuscular Disorders, 2009
Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients ...
BIANCHERI R, CICCOLELLA M, ROSSI A, TESSA A, CASSANDRINI D, MINETTI, CARLO, SANTORELLI FM   +6 more
openaire   +3 more sources

White and grey matter abnormalities in patients withSPG11mutations

Journal of Neurology, Neurosurgery & Psychiatry, 2012
Mutations in SPG11 are the most frequent known cause of autosomal recessive hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but little is known about damage to other structures in the CNS.To evaluate in vivo cerebral damage in patients with SPG11 mutations.5 patients and 15 age and sex matched healthy controls ...
Marcondes C, França, Clarissa L, Yasuda, Fabrício R S, Pereira, Anelyssa, D'Abreu, Camila M, Lopes-Ramos, Madalena V, Rosa, Fernando, Cendes, Iscia, Lopes-Cendes   +7 more
openaire   +2 more sources