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Select item 66393031.

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

Goutam Chandra, Aurelia Defour, Kamel Mamchoui, Kalpana Pandey, Soumya Mishra, Vincent Mouly, SenChandra Sreetama, Mohammad Mahad Ahmad, Ibrahim Mahjneh, Hiroki Morizono, Nagarajan Pattabiraman, Anant K. Menon, Jyoti K. Jaiswal

Cell Death Discov. 2019; 5: 118. Published online 2019 Jul 18. doi: 10.1038/s41420-019-0197-z

PMCID:: PMC6639303

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Select item 62923812.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John J. Alexander, Syed Hussain Askree, Zachary Whitt, Lora Bean, Christin Collins, Satish Khadilkar, Pradnya Gaitonde, Rashna Dastur, Matthew Wicklund, Tahseen Mozaffar, Matthew Harms, Laura Rufibach, Plavi Mittal, Madhuri Hegde

Ann Clin Transl Neurol. 2018 Dec; 5(12): 1574–1587. Published online 2018 Dec 1. doi: 10.1002/acn3.649

PMCID:: PMC6292381

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Select item 52968363.

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Lingling Jin, Yi Liu, Fanyue Sun, Michael T. Collins, Keith Blackwell, Albert S. Woo, Ernst J. Reichenberger, Ying Hu

Sci Rep. 2017; 7: 40935. Published online 2017 Feb 8. doi: 10.1038/srep40935

PMCID:: PMC5296836

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Select item 42067764.

A new distal myopathy with mutation in anoctamin 5

Ibrahim Mahjneh, Jyoti Jaiswal, Antti Lamminen, Mirja Somer, Gareth Marlow, Sari Kiuru-Enari, Rumaisa Bashir

Neuromuscul Disord. Author manuscript; available in PMC 2014 Oct 23.

Published in final edited form as: Neuromuscul Disord. 2010 Dec; 20(12): 791–795. Published online 2010 Aug 7. doi: 10.1016/j.nmd.2010.07.270

PMCID:: PMC4206776

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Select item 40385125.

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sarkozy, Nuria Muelas, Katrin Köehler, Angela Huebner, Gavin Hudson, Patrick F. Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geraldine Bailey, James Miller, Aleksander Radunovic, Paul J. Hughes, Richard Roberts, Sabine Krause, Maggie C. Walter, Steven H. Laval, Volker Straub, Hanns Lochmüller, Kate Bushby

Brain. Author manuscript; available in PMC 2014 May 29.

Published in final edited form as: Brain. 2011 Jan; 134(0 1): 171–182. doi: 10.1093/brain/awq294

PMCID:: PMC4038512

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Select item 35006926.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Francesca Magri, Roberto Del Bo, Maria Grazia D’Angelo, Monica Sciacco, Sandra Gandossini, Alessandra Govoni, Laura Napoli, Patrizia Ciscato, Francesco Fortunato, Erika Brighina, Sara Bonato, Andreina Bordoni, Valeria Lucchini, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Neuromuscul Disord. 2012 Nov; 22(11): 934–943. doi: 10.1016/j.nmd.2012.05.001

PMCID:: PMC3500692

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Select item 28201707.

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, Johan Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard, Wim H.J.P. Linssen, Ibrahim Mahjneh, Marianne de Visser, Rumaisa Bashir, Bernard Brais

Am J Hum Genet. 2010 Feb 12; 86(2): 213–221. doi: 10.1016/j.ajhg.2009.12.013

PMCID:: PMC2820170

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