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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Published in:
2017
By:
- Manole, Andreea;
- Jaunmuktane, Zane;
- Hargreaves, Iain;
- Ludtmann, Marthe H. R.;
- Salpietro, Vincenzo;
- Bello, Oscar D.;
- Pope, Simon;
- Pandraud, Amelie;
- Horga, Alejandro;
- Scalco, Renata S.;
- Abi Li;
- Ashokkumar, Balasubramaniem;
- Lourenc, Charles M.;
- Heales, Simon;
- Horvath, Rita;
- Chinnery, Patrick F.;
- Toro, Camilo;
- Singleton, Andrew B.;
- Jacques, Thomas S.;
- Abramov, Andrey Y.
Publication type:
journal article
Circular oligomerization is an intrinsic property of synaptotagmin.
Published in:
eLife, 2017, p. 1, doi. 10.7554/eLife.27441.001
By:
- Jing Wang;
- Feng Li;
- Bello, Oscar D.;
- Sindelar, Charles Vaughn;
- Pincet, Frédéric;
- Krishnakumar, Shyam S.;
- Rothman, James E.
Publication type:
Article
Dilation of fusion pores by crowding of SNARE proteins.
Published in:
eLife, 2017, p. 1, doi. 10.7554/eLife.22964
By:
- Zhenyong Wu;
- Bello, Oscar D.;
- Thiyagarajan, Sathish;
- Auclair, Sarah Marie;
- Vennekate, Wensi;
- Krishnakumar, Shyam S.;
- O'shaughnessy, Ben;
- Karatekin, Erdem
Publication type:
Article
Ring-like oligomers of Synaptotagmins and related C2 domain proteins.
Published in:
eLife, 2016, p. 1, doi. 10.7554/eLife.17262
By:
- Zanetti, Maria N.;
- Bello, Oscar D.;
- Jing Wang;
- Coleman, Jeff;
- Yiying Cai;
- Sindelar, Charles V.;
- Rothman, James E.;
- Krishnakumar, Shyam S.
Publication type:
Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
By:
- Salpietro, Vincenzo;
- Dixon, Christine L.;
- Guo, Hui;
- Bello, Oscar D.;
- Vandrovcova, Jana;
- Efthymiou, Stephanie;
- Maroofian, Reza;
- Heimer, Gali;
- Burglen, Lydie;
- Valence, Stephanie;
- Torti, Erin;
- Hacke, Moritz;
- Rankin, Julia;
- Tariq, Huma;
- Colin, Estelle;
- Procaccio, Vincent;
- Striano, Pasquale;
- Mankad, Kshitij;
- Lieb, Andreas;
- Chen, Sharon
Publication type:
Article
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Published in:
2017
By:
- Salpietro, Vincenzo;
- Lin, Weichun;
- Delle Vedove, Andrea;
- Storbeck, Markus;
- Liu, Yun;
- Efthymiou, Stephanie;
- Manole, Andreea;
- Wiethoff, Sarah;
- Ye, Qiaohong;
- Saggar, Anand;
- McElreavey, Kenneth;
- Krishnakumar, Shyam S.;
- Pitt, Matthew;
- Bello, Oscar D.;
- Rothman, James E.;
- Basel‐Vanagaite, Lina;
- Hubshman, Monika Weisz;
- Aharoni, Sharon;
- Manzur, Adnan Y.;
- Wirth, Brunhilde
Publication type:
journal article
A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368
By:
- Salpietro, Vincenzo;
- Efthymiou, Stephanie;
- Manole, Andreea;
- Maurya, Bhawana;
- Wiethoff, Sarah;
- Ashokkumar, Balasubramaniem;
- Cutrupi, Maria Concetta;
- Dipasquale, Valeria;
- Manti, Sara;
- Botia, Juan A.;
- Ryten, Mina;
- Vandrovcova, Jana;
- Bello, Oscar D.;
- Bettencourt, Conceicao;
- Mankad, Kshitij;
- Mukherjee, Ashim;
- Mutsuddi, Mousumi;
- Houlden, Henry
Publication type:
Article

Found: 7

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Circular oligomerization is an intrinsic property of synaptotagmin.

Dilation of fusion pores by crowding of SNARE proteins.

Ring-like oligomers of Synaptotagmins and related C2 domain proteins.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.