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1.

Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.

Dong, Yin Yao; Wang, Hua; Pike, Ashley C W; Cochrane, Stephen A; Hamedzadeh, Sadra; Wyszynski, Filip J; Bushell, Simon R; Royer, Sylvain F; Widdick, David A; Sajid, Andaleeb; Boshoff, Helena I; Park, Yumi; Lucas, Ricardo; Liu, Wei-Min; Lee, Seung Seo; Machida, Takuya; Minall, Leanne; Mehmood, Shahid; Belaya, Katsiaryna; Liu, Wei-Wei; Chu, Amy; Shrestha, Leela; Mukhopadhyay, Shubhashish M M; Strain-Damerell, Claire; Chalk, Rod; Burgess-Brown, Nicola A; Bibb, Mervyn J; Barry Iii, Clifton E; Robinson, Carol V; Beeson, David; Davis, Benjamin G; Carpenter, Elisabeth P.

Cell; 175(4): 1045-1058.e16, 2018 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-30388443

2.

Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.

Pradhan, Aditi; Mounford, Hayley; Peixinho, Jessica; Rea, Edward; Epeslidou, Emmanouela; Scott, Julia S; Cull, Joanna; Maxwell, Susan; Webster, Richard; Beeson, David; Dong, Yin Yao; Prekovic, Stefan; Bermudez, Isabel; Newbury, Dianne F.

Cell Mol Life Sci; 81(1): 129, 2024 Mar 12.

Artículo en Inglés | MEDLINE | ID: mdl-38472514

3.

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.

Webster, Richard G; Vanhaesebrouck, An E; Maxwell, Susan E; Cossins, Judith A; Liu, Weiwei; Ueta, Ryo; Yamanashi, Yuji; Beeson, David M W.

Hum Mol Genet; 29(14): 2325-2336, 2020 08 11.

Artículo en Inglés | MEDLINE | ID: mdl-32543656

4.

Pregnancy outcomes in patients with congenital myasthenic syndromes.

O'Connell, Karen; Rooney, Tatiana; Alabaf, Setareh; Ramdas, Sithara; Beeson, David; Palace, Jacqueline.

Muscle Nerve; 66(3): 345-348, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35661384

5.

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.

Cetin, Hakan; Epstein, Max; Liu, Wei W; Maxwell, Susan; Rodriguez Cruz, Pedro M; Cossins, Judith; Vincent, Angela; Webster, Richard; Biggin, Philip C; Beeson, David.

Proc Natl Acad Sci U S A; 116(42): 21228-21235, 2019 10 15.

Artículo en Inglés | MEDLINE | ID: mdl-31570625

6.

Antagonistic postsynaptic and presynaptic actions of cyclohexanol on neuromuscular synaptic transmission and function.

Dissanayake, Kosala N; Margetiny, Filip; Whitmore, Charlotte L; Chou, Robert C-C; Roesl, Cornelia; Patel, Vishwendra; McArdle, Joseph J; Webster, Richard; Beeson, David; Tattersall, John E H; Wyllie, David J A; Eddleston, Michael; Ribchester, Richard R.

J Physiol; 599(24): 5417-5449, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34748643

7.

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Rodríguez Cruz, Pedro M; Cossins, Judith; Cheung, Jonathan; Maxwell, Susan; Jayawant, Sandeep; Herbst, Ruth; Waithe, Dominic; Kornev, Alexandr P; Palace, Jacqueline; Beeson, David.

Hum Mutat; 41(3): 619-631, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31765060

8.

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.

Cetin, Hakan; Webster, Richard; Liu, Wei Wei; Nagaishi, Akiko; Koneczny, Inga; Zimprich, Fritz; Maxwell, Susan; Cossins, Judith; Beeson, David; Vincent, Angela.

J Neurol Neurosurg Psychiatry; 91(5): 526-532, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32165373

9.

ß2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.

Vanhaesebrouck, An E; Webster, Richard; Maxwell, Susan; Rodriguez Cruz, Pedro M; Cossins, Judith; Wickens, James; Liu, Wei-Wei; Cetin, Hakan; Cheung, Jonathan; Ramjattan, Hayley; Palace, Jacqueline; Beeson, David.

Brain; 142(12): 3713-3727, 2019 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-31633155

10.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Rodríguez Cruz, Pedro M; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Wei Liu, Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Conti Reed, Umbertina; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Töpf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline; Beeson, David.

Brain; 142(6): 1547-1560, 2019 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-31081514

11.

Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line.

Cetin, Hakan; Liu, Wei; Cheung, Jonathan; Cossins, Judith; Vanhaesebrouck, An; Maxwell, Susan; Vincent, Angela; Beeson, David; Webster, Richard.

J Physiol; 597(14): 3713-3725, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31158924

12.

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.

Vanhaesebrouck, An E; Beeson, David.

Curr Opin Neurol; 32(5): 696-703, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31361628

13.

Multiple roles of integrin-α3 at the neuromuscular junction.

Ross, Jacob A; Webster, Richard G; Lechertier, Tanguy; Reynolds, Louise E; Turmaine, Mark; Bencze, Maximilien; Jamshidi, Yalda; Cetin, Hakan; Muntoni, Francesco; Beeson, David; Hodilvala-Dilke, Kairbaan; Conti, Francesco J.

J Cell Sci; 130(10): 1772-1784, 2017 05 15.

Artículo en Inglés | MEDLINE | ID: mdl-28386022

14.

Congenital myasthenic syndromes.

Henehan, Leighann; Beeson, David; Palace, Jacqueline.

Pract Neurol; 24(3): 185-187, 2024 May 29.

Artículo en Inglés | MEDLINE | ID: mdl-38631903

15.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Logan, Clare V; Cossins, Judith; Rodríguez Cruz, Pedro M; Parry, David A; Maxwell, Susan; Martínez-Martínez, Pilar; Riepsaame, Joey; Abdelhamed, Zakia A; Lake, Alice V R; Moran, Maria; Robb, Stephanie; Chow, Gabriel; Sewry, Caroline; Hopkins, Philip M; Sheridan, Eamonn; Jayawant, Sandeep; Palace, Jacqueline; Johnson, Colin A; Beeson, David.

Am J Hum Genet; 97(6): 878-85, 2015 Dec 03.

Artículo en Inglés | MEDLINE | ID: mdl-26626625

16.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy, Anna; Torelli, Silvia; Mein, Rachael; Henderson, Matt; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Ala, Pierpaolo; Yau, Michael; Bertoli, Marta; Willis, Tracey; Hammans, Simon; Manzur, Adnan; Sframeli, Maria; Norwood, Fiona; Rakowicz, Wojtek; Radunovic, Aleksandar; Vaidya, Sujit S; Parton, Matt; Walker, Mark; Marino, Silvia; Offiah, Curtis; Farrugia, Maria Elena; Mamutse, Godwin; Marini-Bettolo, Chiara; Wraige, Elizabeth; Beeson, David; Lochmüller, Hanns; Straub, Volker; Bushby, Kate; Barresi, Rita; Muntoni, Francesco.

J Neurol Neurosurg Psychiatry; 89(7): 762-768, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-29437916

17.

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

Rodríguez Cruz, Pedro M; Palace, Jacqueline; Beeson, David.

Int J Mol Sci; 19(6)2018 Jun 05.

Artículo en Inglés | MEDLINE | ID: mdl-29874875

18.

Silencing of Dok-7 in Adult Rat Muscle Increases Susceptibility to Passive Transfer Myasthenia Gravis.

Gomez, Alejandro M; Stevens, Jo A A; Mané-Damas, Marina; Molenaar, Peter; Duimel, Hans; Verheyen, Fons; Cossins, Judith; Beeson, David; De Baets, Marc H; Losen, Mario; Martinez-Martinez, Pilar.

Am J Pathol; 186(10): 2559-68, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-27658713

19.

Congenital myasthenic syndromes: recent advances.

Beeson, David.

Curr Opin Neurol; 29(5): 565-71, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-27472506

20.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz, Pedro M; Belaya, Katsiaryna; Basiri, Keivan; Sedghi, Maryam; Farrugia, Maria Elena; Holton, Janice L; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Walls, Timothy J; Kennett, Robin; Pitt, Matthew; Sarkozy, Anna; Parton, Matt; Lochmüller, Hanns; Muntoni, Francesco; Palace, Jacqueline; Beeson, David.

J Neurol Neurosurg Psychiatry; 87(8): 802-9, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27147698

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