A novel locus for episodic ataxia:UBR4 the likely candidate
Conroy, Judith, McGettigan, Paul, Murphy, Raymond, Webb, David, Murphy, Sinéad M, McCoy, Blathnaid, Albertyn, Christine, McCreary, Dara, McDonagh, Cara, Walsh, Orla, Lynch, Sallyann, Ennis, Sean
Published in European journal of human genetics : EJHG (01.04.2014)
Published in European journal of human genetics : EJHG (01.04.2014)
Get full text
Journal Article
Identification of a mutation in LARS as a novel cause of infantile hepatopathy
Casey, Jillian P., McGettigan, Paul, Lynam-Lennon, Niamh, McDermott, Michael, Regan, Regina, Conroy, Judith, Bourke, Billy, Sullivan, Jacintha O', Crushell, Ellen, Lynch, SallyAnn, Ennis, Sean
Published in Molecular genetics and metabolism (01.07.2012)
Published in Molecular genetics and metabolism (01.07.2012)
Get full text
Journal Article
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype
Casey, Jillian, Kawaguchi, Riki, Morrissey, Maria, Sun, Hui, McGettigan, Paul, Nielsen, Jens E., Conroy, Judith, Regan, Regina, Kenny, Elaine, Cormican, Paul, Morris, Derek W., Tormey, Peter, Ní Chróinín, Muireann, Kennedy, Breandan N., Lynch, SallyAnn, Green, Andrew, Ennis, Sean
Published in Human mutation (01.12.2011)
Published in Human mutation (01.12.2011)
Get full text
Journal Article
Friedreich Ataxia in Classical Galactosaemia
Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen
Published in JIMD Reports, Volume 26 (01.01.2016)
Published in JIMD Reports, Volume 26 (01.01.2016)
Get full text
Book Chapter
Journal Article