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Journal Article
Salpietro, Vincenzo 
ORCID: 0000-0003-0132-7921, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun ORCID: 0000-0003-2063-7132, Efthymiou, Stephanie, Manole, Andreea ORCID: 0000-0002-9397-8248, 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 ORCID: 0000-0003-4051-5191 and Houlden, Henry
(2017).
Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome.
Ann. Neurol., 81 (4).
S. 597 - 604.
HOBOKEN:
WILEY.
ISSN 1531-8249
Ullmann, Urielle, D'Argenzio, Luigi ORCID: 0000-0003-4001-2914, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Pitt, Matthew, Cirak, Sebahattin, Feng, Lucy, Stewart, William, Mein, Rachael, Phadke, Rahul, Sewry, Caroline, Sarkozy, Anna and Muntoni, Francesco
(2018).
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Neuromusc. Disord., 28 (9).
S. 741 - 750.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364