OpenURL Connection Search

Select item for more details and to access through your institution.

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Published in:
2016
By:
- Motley, William W;
- Palaima, Paulius;
- Yum, Sabrina W;
- Gonzalez, Michael A;
- Tao, Feifei;
- Wanschitz, Julia V;
- Strickland, Alleene V;
- Löscher, Wolfgang N;
- De Vriendt, Els;
- Koppi, Stefan;
- Medne, Livija;
- Janecke, Andreas R;
- Jordanova, Albena;
- Zuchner, Stephan;
- Scherer, Steven S
Publication type:
journal article
A Spontaneous Mutation in Contactin 1 in the Mouse.
Published in:
PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029538
By:
- Davisson, Muriel T.;
- Bronson, Roderick T.;
- Tadenev, Abigail L. D.;
- Motley, William W.;
- Krishnaswamy, Arjun;
- Seburn, Kevin L.;
- Burgess, Robert W.
Publication type:
Article
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07718-5
By:
- Meister-Broekema, Melanie;
- Freilich, Rebecca;
- Jagadeesan, Chandhuru;
- Rauch, Jennifer N.;
- Bengoechea, Rocio;
- Motley, William W.;
- Kuiper, E. F. Elsiena;
- Minoia, Melania;
- Furtado, Gabriel V.;
- van Waarde, Maria A. W. H.;
- Bird, Shawn J.;
- Rebelo, Adriana;
- Zuchner, Stephan;
- Pytel, Peter;
- Scherer, Steven S.;
- Morelli, Federica F.;
- Carra, Serena;
- Weihl, Conrad C.;
- Bergink, Steven;
- Gestwicki, Jason E.
Publication type:
Article
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Published in:
2020
By:
- Sullivan, Jeremy M.;
- Motley, William W.;
- Johnson, Janel O.;
- Aisenberg, William H.;
- Marshall, Katherine L.;
- Barwick, Katy E. S.;
- Lingling Kong;
- Huh, Jennifer S.;
- Saavedra-Rivera, Pamela C.;
- McEntagart, Meriel M.;
- Marion, Marie-Helene;
- Hicklin, Lucy A.;
- Modarres, Hamid;
- Baple, Emma L.;
- Farah, Mohamed H.;
- Zuberi, Aamir R.;
- Lutz, Cathleen M.;
- Gaudet, Rachelle;
- Traynor, Bryan J.;
- Crosby, Andrew H.
Publication type:
journal article
Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts.
Published in:
SAGE Open Medicine, 2017, v. 5, p. 1, doi. 10.1177/2050312117715583
By:
- Santoro, Stephanie L.;
- Atoum, Dema;
- Hufnagel, Robert B.;
- Motley, William W.
Publication type:
Article
Inducible knockout of Clec16a in mice results in sensory neurodegeneration.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88895-0
By:
- Hain, Heather S.;
- Pandey, Rahul;
- Bakay, Marina;
- Strenkowski, Bryan P.;
- Harrington, Danielle;
- Romer, Micah;
- Motley, William W.;
- Li, Jian;
- Lancaster, Eunjoo;
- Roth, Lindsay;
- Grinspan, Judith B.;
- Scherer, Steven S.;
- Hakonarson, Hakon
Publication type:
Article
Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 15, p. 4397, doi. 10.1093/hmg/ddv176
By:
- Grice, Stuart J.;
- Sleigh, James N.;
- Motley, William W.;
- Ji-Long Liu;
- Burgess, Robert W.;
- Talbot, Kevin;
- Cader, M. Zameel
Publication type:
Article
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 18, p. 3667, doi. 10.1093/hmg/ddr288
By:
- Kwon, Deborah Y.;
- Motley, William W.;
- Fischbeck, Kenneth H.;
- Burnett, Barrington G.
Publication type:
Article
Charcot-Marie-Tooth--Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels.
Published in:
PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002399
By:
- Motley, William W.;
- Seburn, Kevin L.;
- Nawaz, Mir Hussain;
- Miers, Kathy E.;
- Cheng, Jun;
- Antonellis, Anthony;
- Green, Eric D.;
- Talbot, Kevin;
- Xiang-Lei Yang;
- Fischbeck, Kenneth H.;
- Burgess, Robert W.
Publication type:
Article
Mutation in Mouse Hei10, an E3 Ubiquitin Ligase, Disrupts Meiotic Crossing Over.
Published in:
PLoS Genetics, 2007, v. 3, n. 8, p. 1550, doi. 10.1371/journal.pgen.0030139
By:
- Ward, Jeremy O.;
- Reinholdt, Laura G.;
- Motley, William W.;
- Niswander, Lisa M.;
- Deacon, Dekker C.;
- Griffin, Laurie B.;
- Langlais, Kristofor K.;
- Backus, Vickie L.;
- Schimenti, Kerry J.;
- O'Brien, Marilyn J.;
- Eppig, John J.;
- Schimenti, John C.
Publication type:
Article
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Published in:
Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 36, doi. 10.1111/jns.12248
By:
- Dankwa, Lois;
- Richardson, Jessica;
- Motley, William W.;
- Züchner, Stephan;
- Scherer, Steven S.
Publication type:
Article

Found: 11