PMC Links for Books (Select 1470846) - PMC

Stéphanie Bauché, Alain Sureau, Damien Sternberg, John Rendu, Céline Buon, Julien Messéant, Myriam Boëx, Denis Furling, Julien Fauré, Xénia Latypova, Antoinette Bernabe Gelot, Michèle Mayer, Pierre Mary, Sandra Whalen, Emmanuel Fournier, Isabelle Cloix, Ganaelle Remerand, Fanny Laffargue, Marie-Christine Nougues, Bertrand Fontaine, Bruno Eymard, Arnaud Isapof, Laure Strochlic

Neurol Genet. 2020 Dec; 6(6): e534. Published online 2020 Dec 3. doi: 10.1212/NXG.0000000000000534

PMCID:: PMC7803339

Article PDF–708K

Select item 77505194.

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

Adela Della Marina, Eva Wibbeler, Angela Abicht, Heike Kölbel, Hanns Lochmüller, Andreas Roos, Ulrike Schara

Front Hum Neurosci. 2020; 14: 560860. Published online 2020 Dec 7. doi: 10.3389/fnhum.2020.560860

PMCID:: PMC7750519

Article PDF–838K

Select item 76601515.

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission

Judith Cossins, Richard Webster, Susan Maxwell, Pedro M Rodríguez Cruz, Ravi Knight, John Gareth Llewelyn, Ji-Yeon Shin, Jacqueline Palace, David Beeson

Brain Commun. 2020; 2(2): fcaa174. Published online 2020 Oct 18. doi: 10.1093/braincomms/fcaa174

PMCID:: PMC7660151

Article PDF–1.2M

Select item 73971876.

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Magdalena Mroczek, Hacer Durmus, Ana Töpf, Yesim Parman, Volker Straub

Genes (Basel) 2020 Jul; 11(7): 716. Published online 2020 Jun 27. doi: 10.3390/genes11070716

PMCID:: PMC7397187

Article PDF–1.7M

Select item 73970447.

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings

Olga Shchagina, Ludmila Bessonova, Igor Bychkov, Tatiana Beskorovainaya, Aleksander Poliakov

Genes (Basel) 2020 Jul; 11(7): 821. Published online 2020 Jul 19. doi: 10.3390/genes11070821

PMCID:: PMC7397044

Article PDF–669K

Select item 70290058.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller

Eur J Hum Genet. 2020 Mar; 28(3): 373–377. Published online 2019 Sep 16. doi: 10.1038/s41431-019-0506-2

PMCID:: PMC7029005

Article PDF–487K

Select item 69245669.

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

Chaya Murali, Dong Li, Katheryn Grand, Hakon Hakonarson, Elizabeth Bhoj

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 20.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 655–658. Published online 2019 Feb 4. doi: 10.1002/ajmg.a.61060

PMCID:: PMC6924566

Article PDF–49K

Select item 689264110.

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

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

Brain. 2019 Dec; 142(12): 3713–3727. Published online 2019 Oct 21. doi: 10.1093/brain/awz322

PMCID:: PMC6892641

Article PDF–1.3M

Select item 675222711.

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

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

Brain. 2019 Jun; 142(6): 1547–1560. Published online 2019 May 13. doi: 10.1093/brain/awz107

PMCID:: PMC6752227

Article PDF–1.2M

Select item 673552412.

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

An E. Vanhaesebrouck, David Beeson

Curr Opin Neurol. 2019 Oct; 32(5): 696–703. Published online 2019 Aug 5. doi: 10.1097/WCO.0000000000000736

PMCID:: PMC6735524

Article PDF–655K

Select item 650491013.

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

Julien Oury, Yun Liu, Ana Töpf, Slobodanka Todorovic, Esthelle Hoedt, Veeramani Preethish-Kumar, Thomas A. Neubert, Weichun Lin, Hanns Lochmüller, Steven J. Burden

J Cell Biol. 2019 May 6; 218(5): 1686–1705. Published online 2019 Mar 6. doi: 10.1083/jcb.201810023

PMCID:: PMC6504910

Article PDF–4.2M

Select item 643673114.

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller

Emerg Top Life Sci. 2019 Mar 29; 3(1): 19–37. Published online 2019 Jan 28. doi: 10.1042/ETLS20180100

PMCID:: PMC6436731

Article PDF–1.5M

Select item 639056615.

Congenital myasthenic syndromes

Josef Finsterer

Orphanet J Rare Dis. 2019; 14: 57. Published online 2019 Feb 26. doi: 10.1186/s13023-019-1025-5

PMCID:: PMC6390566

Article PDF–1.0M

Select item 625210516.

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Marian Lara, Fiona Ng, Victoria Lee Lo, Peter Pytel, Craig M. McDonald

Ann N Y Acad Sci. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Ann N Y Acad Sci. 2018 Feb; 1413(1): 119–125. Published online 2018 Jan 28. doi: 10.1111/nyas.13585

PMCID:: PMC6252105

Article PDF–1.0M

Select item 625160317.

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

Justin C. Kao, Margherita Milone, Duygu Selcen, Xin-Ming Shen, Andrew G. Engel, Teerin Liewluck

Neurology. 2018 Nov 6; 91(19): e1770–e1777. doi: 10.1212/WNL.0000000000006478

PMCID:: PMC6251603

Article PDF–260K

Select item 604773718.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

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

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2016 Aug; 87(8): 802–809. Published online 2016 May 4. doi: 10.1136/jnnp-2016-313163

PMCID:: PMC6047737

Article PDF–1.9M

Select item 603228619.

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Pedro M. Rodríguez Cruz, Jacqueline Palace, David Beeson

Int J Mol Sci. 2018 Jun; 19(6): 1677. Published online 2018 Jun 5. doi: 10.3390/ijms19061677

PMCID:: PMC6032286

Article PDF–3.3M

Select item 601445820.

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

Ricardo A. Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B. Strober, Peter Pytel, Robert L. Wollmann, Michael Ferns

Mol Genet Genomic Med. 2018 May; 6(3): 434–440. Published online 2018 Feb 14. doi: 10.1002/mgg3.370

PMCID:: PMC6014458

Article PDF–2.2M

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