Results 231 to 240 of about 388,137 (254)

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 ...
Fabricio Pereira, Camila M. Lopes-Ramos, Anelyssa D'Abreu, Fernando Cendes, Marcondes C. França, Clarissa L. Yasuda, Iscia Lopes-Cendes, Madalena Rosa   +7 more
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The influence of Vanishing White Matter mutations on oligodendrocyte differentiation

Tijdschrift voor Kindergeneeskunde, 2013
s ingediend voor het Amsterdam Kindersymposium 2013 35 The influence of Vanishing White Matter mutations on oligodendrocyte differentiation S. Dooves (1,2), J.A. van der Kreeke (1,2), P. Leferink (1,2), J.G. Jacobs (1,2), M.S. van der Knaap (1), V.M.
J.G. Jacobs, J.A. van der Kreeke, Prisca S. Leferink, Stephanie Dooves, M.S. van der Knaap, Vivi M. Heine   +5 more
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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 ...
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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.
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The nature of radiation-induced mutations at the white locus of Drosophila melanogaster

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 1987
X-Ray- and neutron-induced mutations at the white locus of Drosophila melanogaster were used to study the nature of radiation-induced genetic damage. Genetic analysis showed the presence of multi-locus deficiencies in 15 out of 31 X-ray mutants and in 26 out of 35 mutants induced by neutrons.
C. Vreeken, C. Vreeken, J.C.J. Eeken, J.C.J. Eeken, E. Parádi, Albert Pastink, Albert Pastink, A.P. Schalet, A.P. Schalet   +8 more
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Arg113His mutation of vanishing white matter is not present in multiple sclerosis

Multiple Sclerosis Journal, 2007
Vanishing white matter (VWM) is a childhood leukoencephalopathy with central hypomyelination, white matter rarefaction, and cystic degeneration. Adult onset, variable phenotype, and high frequency characterize Arg113His mutation caused by G338A polymorphism associated with VWM.
Guillermo Izquierdo, Maria Isabel García-Sánchez, Francisca Solano, Ana Venegas, Lucia Ortiz, Miguel Lucas, Ana Marcos, Rocio Suárez   +7 more
openaire   +3 more sources

Mouse rump-white mutation associated with an inversion of Chromosome 5

Mammalian Genome, 1994
The rump-white (Rw) mutation in the mouse was previously mapped as part of a cluster of spotting genes on Chromosome (Chr) 5 that includes the dominant spotting (W) and patch (Ph) loci. Recent studies have shown that the W locus encodes the KIT tyrosine kinase cell surface receptor and that Ph is a deletional mutation encompassing the platelet-derived ...
D. Miller, K.-H. Lee, Deborah L. Nagle, Verne M. Chapman, A. Morrow, C.-H. Yen, Maja Bucan, Dennis A. Stephenson   +7 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.
Anthony J. Cornel, Anthony J. Cornel, Frank H. Collins, Frank H. Collins, Mark Q. Benedict, N. J. Besansky, N. J. Besansky, Zhaoxi Ke, Zhaoxi Ke, Zhaoxi Ke   +9 more
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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 spectrum of mutations for the diagnosis of vanishing white matter disease

Neurological Sciences, 2006
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation ...
SCALI O., DI PERRI C., FEDERICO A.
openaire   +4 more sources