Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
Leventer, Richard J, Scerri, Thomas, Marsh, Ashley P L, Pope, Kate, Gillies, Greta, Maixner, Wirginia, MacGregor, Duncan, Harvey, A Simon, Delatycki, Martin B, Amor, David J, Crino, Peter, Bahlo, Melanie, Lockhart, Paul J
Published in Neurology (19.05.2015)
Published in Neurology (19.05.2015)
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Journal Article
DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans
da Silva, Ronan V., Johannssen, Helge C., Wyss, Matthias T., Roome, R. Brian, Bourojeni, Farin B., Stifani, Nicolas, Marsh, Ashley P.L., Ryan, Monique M., Lockhart, Paul J., Leventer, Richard J., Richards, Linda J., Rosenblatt, Bernard, Srour, Myriam, Weber, Bruno, Zeilhofer, Hanns Ulrich, Kania, Artur
Published in Cell reports (Cambridge) (30.01.2018)
Published in Cell reports (Cambridge) (30.01.2018)
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Journal Article
The energetic brain – A review from students to students
Bordone, Melina Paula, Salman, Mootaz M., Titus, Haley E., Amini, Elham, Andersen, Jens V., Chakraborti, Barnali, Diuba, Artem V., Dubouskaya, Tatsiana G., Ehrke, Eric, Espindola de Freitas, Andiara, Braga de Freitas, Guilherme, Gonçalves, Rafaella A., Gupta, Deepali, Gupta, Richa, Ha, Sharon R., Hemming, Isabel A., Jaggar, Minal, Jakobsen, Emil, Kumari, Punita, Lakkappa, Navya, Marsh, Ashley P. L., Mitlöhner, Jessica, Ogawa, Yuki, Kumar, Paidi Ramesh, Ribeiro, Felipe C., Salamian, Ahmad, Saleem, Suraiya, Sharma, Sorabh, Silva, Joana M., Singh, Shripriya, Sulakhiya, Kunjbihari, Tefera, Tesfaye Wolde, Vafadari, Behnam, Yadav, Anuradha, Yamazaki, Reiji, Seidenbecher, Constanze I.
Published in Journal of neurochemistry (01.10.2019)
Published in Journal of neurochemistry (01.10.2019)
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Journal Article
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Journal Article
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Mane, Shrikant M., Rad, Aboulfazl, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Journal Article
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
Marsh, Ashley P L, Novarino, Gaia, Lockhart, Paul J, Leventer, Richard J
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
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Journal Article
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Marsh, Ashley P. L., Edwards, Timothy J., Galea, Charles, Cooper, Helen M., Engle, Elizabeth C., Jamuar, Saumya S., Méneret, Aurélie, Moutard, Marie‐Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer‐Smith, Megan, Trouillard, Oriane, Billette de Villemeur, Thierry, Walsh, Christopher A., Yu, Timothy W., Heron, Delphine, Sherr, Elliott H., Richards, Linda J., Depienne, Christel, Leventer, Richard J., Lockhart, Paul J.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Journal Article
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation
Morcom, Laura, Gobius, Ilan, Marsh, Ashley Pl, Suárez, Rodrigo, Lim, Jonathan Wc, Bridges, Caitlin, Ye, Yunan, Fenlon, Laura R, Zagar, Yvrick, Douglass, Amelia M, Donahoo, Amber-Lee S, Fothergill, Thomas, Shaikh, Samreen, Kozulin, Peter, Edwards, Timothy J, Cooper, Helen M, Sherr, Elliott H, Chédotal, Alain, Leventer, Richard J, Lockhart, Paul J, Richards, Linda J
Published in eLife (19.04.2021)
Published in eLife (19.04.2021)
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Journal Article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Marsh, Ashley P. L., Yap, Patrick, Tan, Tiong, Pope, Kate, White, Susan M., Chong, Belinda, Mcgillivray, George, Boys, Amber, Stephenson, Sarah E. M., Leventer, Richard J., Stark, Zornitza, Lockhart, Paul J.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Journal Article
Investigating the role of somatic mutations in malformations of brain development
Leventer, Richard J., Scerri, Thomas, Marsh, Ashley P.L., Maixner, Wirginia, MacGregor, Duncan, Harvey, A. Simon, Delatycki, Martin B., Amor, David J., Bahlo, Melanie, Lockhart, Paul J.
Published in Pathology (01.02.2017)
Published in Pathology (01.02.2017)
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Journal Article
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
Amor, David J, Marsh, Ashley P L, Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B, Pope, Kate, Bromhead, Catherine, Leventer, Richard J, Bahlo, Melanie, Lockhart, Paul J
Published in Neurology. Genetics (01.12.2016)
Published in Neurology. Genetics (01.12.2016)
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Journal Article
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Marsh, Ashley P L, Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M, Yiu, Eppie M, Sim, Joe C H, Delatycki, Martin B, Amor, David J, McGillivray, George, Sherr, Elliott H, Bahlo, Melanie, Leventer, Richard J, Lockhart, Paul J
Published in Neurology. Genetics (01.08.2015)
Published in Neurology. Genetics (01.08.2015)
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Journal Article
Chromosomal assignment of the murine Gialpha and Gsalpha genes. Implications for the obese mouse
Ashley, P.L, Ellison, J, Sullivan, K.A, Bourne, H.R, Cox, D.R
Published in The Journal of biological chemistry (05.11.1987)
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Published in The Journal of biological chemistry (05.11.1987)
Journal Article
A functional mouse ornithine decarboxylase gene (Odc) maps to chromosome 12: further evidence of homoeology between mouse chromosome 12 and the short arm of human chromosome 2
Cox, D R, Trouillot, T, Ashley, P L, Brabant, M, Coffino, P
Published in Cytogenetics and cell genetics (1988)
Published in Cytogenetics and cell genetics (1988)
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