Zobrazeno 1 - 10
of 43
pro vyhledávání: '"G. A. Rouleau"'
Publikováno v:
The Journal of Sexual Medicine. 20
Introduction The pelvic floor muscles (PFM) have been suggested to play a key role in sexual function and sexual response in women. However, current syntheses of the evidence have been limited to interventional studies investigating the effect of mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d2f09c04b9b82eb0d23ff63ce4c6134
https://doi.org/10.1093/jsxmed/qdad061.095
https://doi.org/10.1093/jsxmed/qdad061.095
Publikováno v:
Clinical Genetics. 79:23-34
Distal hereditary motor neuropathy (dHMN) is a sub-group of Charcot-Marie-Tooth disease (CMT), the most common peripheral neuropathy, that affects only motor neurons. The recent observation of ATP7A mutations in dHMN provides insight for a common dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce9b959f639ea77194bf738537501df
https://doi.org/10.1111/j.1399-0004.2010.01591.x
https://doi.org/10.1111/j.1399-0004.2010.01591.x
Publikováno v:
NeuroReport. 8:2025-2030
Neurofibromatosis type 2 (NF2) is an autosomal dominant genetic disorder characterized by the development of bilateral vestibular schwannomas, meningiomas, ependymomas and juvenile lens opacities. The NF2 gene encodes a tumor suppressor protein, schw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1a47e76bff12f51213913b62118d0e
https://doi.org/10.1097/00001756-199705260-00044
https://doi.org/10.1097/00001756-199705260-00044
Autor:
J. K. Fink, T. Heiman-Patterson, T. Bird, F. Cambi, M.-P. Dube, D. A. Figlewicz, J. L. Haines, A. Hentati, M. A. Pericak-Vance, W. Raskind, G. A. Rouleau, T. Siddique
Publikováno v:
Neurology. 46:1507-1514
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccb5cda779835b8258fd1fb448359b52
https://doi.org/10.1212/wnl.46.6.1507
https://doi.org/10.1212/wnl.46.6.1507
Autor:
M, Cadieux-Dion, E, Andermann, P, Lachance-Touchette, O, Ansorge, C, Meloche, A, Barnabé, R I, Kuzniecky, F, Andermann, E, Faught, S, Leonberg, J A, Damiano, S F, Berkovic, G A, Rouleau, P, Cossette
Publikováno v:
Clinical genetics. 83(6)
We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c15186f4ef03076520687fd8ae76a37c
https://pubmed.ncbi.nlm.nih.gov/22978711
https://pubmed.ncbi.nlm.nih.gov/22978711
Publikováno v:
Revue neurologique. 164(1)
It has been demonstrated, for many inherited diseases, that historical events have shaped the various regional gene pools of Eastern Canada. In so doing, it has given rise to the increased prevalence of some rare diseases due, to founder effects. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::baa8432243843cd76a1a7b6aeb44e68b
https://pubmed.ncbi.nlm.nih.gov/18342054
https://pubmed.ncbi.nlm.nih.gov/18342054
Publikováno v:
Biochemistry and cell biology = Biochimie et biologie cellulaire. 84(6)
Red blood cells (RBCs) possess the K-Cl cotransport (KCC) isoforms 1, 3, and 4. Mutations within a given isoform may affect overall KCC activity. In a double-blind study, we analyzed, with Rb as a K congener, K fluxes (total flux, ouabain-sensitive N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b312389b7750b5f1e2e837c5d176822
https://pubmed.ncbi.nlm.nih.gov/17215889
https://pubmed.ncbi.nlm.nih.gov/17215889
Autor:
A M, Siegel, H, Bertalanffy, J J, Dichgans, C E, Elger, H, Hopf, N, Hopf, M, Keidel, A, Kleider, G, Nowak, R A, Pfeiffer, J, Schramm, S, Spuck, H, Stefan, U, Sure, C R, Baumann, G A, Rouleau, D J, Verlaan, E, Andermann, F, Andermann
Publikováno v:
Der Nervenarzt. 76(2)
In 1928, Hugo Friedrich Kufs reported on a family with cerebral, retinal, and cutaneous cavernous malformations. Since then, more than 300 families with inherited cavernous malformations have been reported. Genetic studies showed three loci, on chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6fcc5a7e73b1c26a160bae1dad1fc66
https://pubmed.ncbi.nlm.nih.gov/15702360
https://pubmed.ncbi.nlm.nih.gov/15702360
Publikováno v:
Clinical genetics. 64(3)
Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::162285aea162b286b4c15fb89e32731d
https://pubmed.ncbi.nlm.nih.gov/12919135
https://pubmed.ncbi.nlm.nih.gov/12919135
Publikováno v:
Revue neurologique. 158(12 Pt 1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2642a110d58e74d47d7ecadcb14b887a
https://pubmed.ncbi.nlm.nih.gov/12690746
https://pubmed.ncbi.nlm.nih.gov/12690746