Results 31 to 40 of about 1,639,589 (408)

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy [PDF]

Parkinsonism and Related Disorders, Elsevier, 45, pp.85-89 (2017), 2020
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families.METHODS: Two families displaying an autosomal-dominant ...
arxiv   +1 more source

Impaired Cleavage of Preproinsulin Signal Peptide Linked to Autosomal-Dominant Diabetes [PDF]

, 2012
Recently, missense mutations upstream of preproinsulin’s signal peptide (SP) cleavage site were reported to cause mutant INS gene-induced diabetes of youth (MIDY).
Arvan, Peter, Barbetti, Fabrizio, Guo, Huan, Haataja, Leena, Lara-Lemus, Roberto, Larkin, Dennis, Liu, Ming, Shan, Shu-ou, Wright, Jordan   +8 more
core   +1 more source

Effect of Heterogeneous Mixing and Vaccination on the Dynamics of Anthelmintic Resistance: A Nested Model [PDF]

Sabatelli L (2010) Effect of Heterogeneous Mixing and Vaccination on the Dynamics of Anthelmintic Resistance: A Nested Model. PLoS ONE 5(5): e10686. doi:10.1371/journal.pone.0010686, 2010
Anthelmintic resistance is a major threat to current measures for helminth control in humans and animals. The introduction of anthelmintic vaccines, as a complement to or replacement for drug treatments, has been advocated as a preventive measure. Here, a computer-based simulation, tracking the dynamics of hosts, parasites and parasite-genes, shows ...
arxiv   +1 more source

A variable neurodegenerative phenotype with polymerase gamma mutation [PDF]

, 2009
mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve
Baruffini, E., Endres, M., Horvath, Rita, Lodi, T., Meisel, A., Prüss, H., Siebert, E., Stricker, S., Zschenderlein, R.   +8 more
core   +1 more source

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

European Journal of Human Genetics, 2019
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
M. Pennings, M. Schouten, J. van Gaalen, R. Meijer, S. D. de Bot, M. Kriek, C. Saris, L. H. van den Berg, M. V. van Es, D. M. H. Zuidgeest, M. Elting, J. M. van de Kamp, K. V. van Spaendonck‐Zwarts, C. D. Die-Smulders, E. Brilstra, Corien Verschuuren, B. D. de Vries, J. Bruijn, K. Sofou, F. Duijkers, B. Jaeger, J. Schieving, B. P. van de Warrenburg, E. Kamsteeg   +23 more
semanticscholar   +1 more source

Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families [PDF]

, 2017
Purpose : Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases.
Casteels, Ingele, Claes, Charlotte, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, de Ravel, Thomy, De Zaeytijd, Julie, Depasse, Fanny, Flipts, Helena, Fransen, Erik, Leroy, Bart, Roels, Dimitri, Van Camp, Guy, Van Cauwenbergh, Caroline, WALRAEDT, SOPHIE   +14 more
core   +7 more sources

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]

, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Abitbol, M., Arbogast, L., Basak, Ajit K., Benazzouz, B., Berraho, A., Boutayeb, S., Cherif Chefchaouni, M., Gribouval, O., Hajaji, Y., Hilal, L., Nandrot, E., Slingsby, Christine   +11 more
core   +2 more sources

An excess of gene expression divergence on the X chromosome in Drosophila embryos; implications for the faster-X hypothesis [PDF]

PLoS Genetics (2012)8(12):e1003200, 2012
The X chromosome is present as a single copy in the heterogametic sex, and this hemizygosity is expected to drive unusual patterns of evolution on the X relative to the autosomes. For example, the hemizgosity of the X may lead to a lower chromosomal effective population size compared to the autosomes suggesting that the X might be more strongly ...
arxiv   +1 more source

The Autosomal Dominant Dystonias

Brain Pathology, 1992
Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders.
Stanley Fahn, Xandra O. Breakefield, Thomas Gasser   +2 more
openaire   +3 more sources

Exclusion of the Locus for Autosomal Recessive Pseudohypoaldosteronism Type 1 from the Mineralocorticoid Receptor Gene Region on Human Chromosome 4q by Linkage Analysis. [PDF]

, 1995
Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids.
Bistritzer, T., Chung, E., Dillon, M., Gardiner, R.M., Hanukoglu, A., Hanukoglu, I., Kuhnle, U., Rees, M., Seckl, J., Thompson, R.   +9 more
core   +1 more source