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Select item 102650341.

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova

Mol Genet Genomic Med. 2023 Jun; 11(6): e2154. Published online 2023 Feb 24. doi: 10.1002/mgg3.2154

PMCID:: PMC10265034

Abstract Article PDF–519K

Select item 25699382.

The effects of the Mulligan Sustained Natural Apophyseal Glide (SNAG) mobilisation in the lumbar flexion range of asymptomatic subjects as measured by the Zebris CMS20 3-D motion analysis system

Maria Moutzouri, Evdokia Billis, Nikolaos Strimpakos, Polixeni Kottika, Jacqueline A Oldham

BMC Musculoskelet Disord. 2008; 9: 131. Published online 2008 Oct 1. doi: 10.1186/1471-2474-9-131

PMCID:: PMC2569938

Abstract Article PDF–572K

Select item 31031153.

Reproducibility of global three-dimensional motion during manual atlanto-axial rotation mobilization: an in vitro study

Erik Cattrysse, Steven Provyn, Patrick Kool, Jan Pieter Clarys, Peter Van Roy

J Man Manip Ther. 2010 Mar; 18(1): 15–21. doi: 10.1179/106698110X12595770849489

PMCID:: PMC3103115

Abstract Article PDF–403K

Select item 58442144.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang, Claire G Salter, Osama Refai, Holly Hardy, Katy E S Barwick, Ugur Akpulat, Malin Kvarnung, Barry A Chioza, Gaurav Harlalka, Fulya Taylan, Thomas Sejersen, Jane Wright, Holly H Zimmerman, Mert Karakaya, Burkhardt Stüve, Joachim Weis, Ulrike Schara, Mark A Russell, Omar A Abdul-Rahman, John Chilton, Randy D Blakely, Emma L Baple, Sebahattin Cirak, Andrew H Crosby

Brain. 2017 Nov; 140(11): 2838–2850. Published online 2017 Oct 27. doi: 10.1093/brain/awx249

PMCID:: PMC5844214

Abstract Article PDF–7.6M

Select item 22170385.

Mutation in the M1 Domain of the Acetylcholine Receptor α Subunit Decreases the Rate of Agonist Dissociation

Hai-Long Wang, Anthony Auerbach, Nina Bren, Kinji Ohno, Andrew G. Engel, Steven M. Sine

J Gen Physiol. 1997 Jun 1; 109(6): 757–766. doi: 10.1085/jgp.109.6.757

Correction in:: J Gen Physiol. 1997 Aug 1; 110(2): 215.

PMCID:: PMC2217038

Abstract Article PDF–304K

Select item 32098326.

A valid mouse model of AGRIN-associated congenital myasthenic syndrome

Laurent P. Bogdanik, Robert W. Burgess

Hum Mol Genet. 2011 Dec 1; 20(23): 4617–4633. Published online 2011 Sep 1. doi: 10.1093/hmg/ddr396

PMCID:: PMC3209832

Abstract Article PDF–952K

Select item 33929937.

Protein-anchoring Strategy for Delivering Acetylcholinesterase to the Neuromuscular Junction

Mikako Ito, Yumi Suzuki, Takashi Okada, Takayasu Fukudome, Toshiro Yoshimura, Akio Masuda, Shin'ichi Takeda, Eric Krejci, Kinji Ohno

Mol Ther. 2012 Jul; 20(7): 1384–1392. Published online 2012 Feb 28. doi: 10.1038/mt.2012.34

PMCID:: PMC3392993

Abstract Article PDF–448K

Select item 40357118.

DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

Duygu Selcen, Xin-Ming Shen, Joan Brengman, Ying Li, Anthony A. Stans, Eric Wieben, Andrew G. Engel

Neurology. 2014 May 20; 82(20): 1822–1830. doi: 10.1212/WNL.0000000000000435

PMCID:: PMC4035711

Abstract Article PDF–828K

Select item 45470529.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson

Brain. 2015 Sep; 138(9): 2493–2504. Published online 2015 Jul 1. doi: 10.1093/brain/awv185

PMCID:: PMC4547052

Abstract Article PDF–788K

Select item 463725010.

COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy

Barbara Gandolfi, Robert A. Grahn, Erica K. Creighton, D. Colette Williams, Peter J. Dickinson, Beverly K. Sturges, Ling T. Guo, G. Diane Shelton, Peter A. J. Leegwater, Maria Longeri, Richard Malik, Leslie A. Lyons

Anim Genet. 2015 Dec; 46(6): 711–715. Published online 2015 Sep 16. doi: 10.1111/age.12350

PMCID:: PMC4637250

Abstract Article PDF–168K

Select item 497859711.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Hussein Daoud, Stephanie M. Luco, Rui Li, Eric Bareke, Chandree Beaulieu, Olga Jarinova, Nancy Carson, Sarah M. Nikkel, Gail E. Graham, Julie Richer, Christine Armour, Dennis E. Bulman, Pranesh Chakraborty, Michael Geraghty, Matthew A. Lines, Thierry Lacaze-Masmonteil, Jacek Majewski, Kym M. Boycott, David A. Dyment

CMAJ. 2016 Aug 9; 188(11): E254–E260. doi: 10.1503/cmaj.150823

PMCID:: PMC4978597

Abstract Article PDF–92K

Select item 498157012.

True grit and genetics: predicting academic achievement from personality

Kaili Rimfeld, Yulia Kovas, Philip S. Dale, Robert Plomin

J Pers Soc Psychol. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: J Pers Soc Psychol. 2016 Nov; 111(5): 780–789. Published online 2016 Feb 11. doi: 10.1037/pspp0000089

PMCID:: PMC4981570

Abstract Article PDF–421K

Select item 501105713.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, Seana O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole

Am J Hum Genet. 2016 Sep 1; 99(3): 753–761. Published online 2016 Aug 25. doi: 10.1016/j.ajhg.2016.06.033

PMCID:: PMC5011057

Abstract Article PDF–1.0M

Select item 525596014.

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law

Eur J Hum Genet. 2017 Feb; 25(2): 192–199. Published online 2016 Dec 14. doi: 10.1038/ejhg.2016.162

PMCID:: PMC5255960

Abstract Article PDF–2.2M

Select item 576061315.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller

J Neurol. 2018; 265(1): 194–203. Published online 2017 Nov 30. doi: 10.1007/s00415-017-8689-3

PMCID:: PMC5760613

Abstract Article PDF–1.1M

Select item 1153184516.

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer, Antoine Pegat, Françoise Bouhour, Juliette Svahn, Philippe Petiot, Laurentiu Jomir, Guy Chauplannaz, Catherine Cornut-Chauvinc, Véronique Manel, Emmanuelle Salort-Campana, Shahram Attarian, Etienne Fortanier, Annie Verschueren, Ludivine Kouton, Jean-Philippe Camdessanché, Céline Tard, Armelle Magot, Yann Péréon, Jean-Baptiste Noury, Marie-Christine Minot-Myhie, Maud Perie, Frederic Taithe, Yacine Farhat, Anne-Laure Millet, Pascal Cintas, Guilhem Solé, Marco Spinazzi, Florence Esselin, Dimitri Renard, Sabrina Sacconi, Andra Ezaru, Edoardo Malfatti, Martial Mallaret, Laurent Magy, Eva Diab, Philippe Merle, Maud Michaud, Maxime Fournier, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Claire Lefeuvre, Pascal Laforet, Pascale Richard, Damien Sternberg, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Bruno Eymard

Brain. 2024 Nov; 147(11): 3849–3862. Published online 2024 May 2. doi: 10.1093/brain/awae124