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Select item 103747741.

An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies

Sahar Sabry, Mahmoud Y Issa, Mohamed S Abdel-Hamid, Noura R Eissa, Sherif F Abdel-Ghafar, Mona M Ibrahim, Maha S Zaki

Mol Biol Rep. 2023; 50(8): 6373–6379. Published online 2023 Jun 15. doi: 10.1007/s11033-023-08500-7

PMCID:: PMC10374774

Abstract Article PDF–1.0M

Select item 88427572.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 80290813.

Degree of Cajal–Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy

Helen S. Booler, Josie L. Williams, Mark Hopkinson, Susan C. Brown

Brain Pathol. 2016 Jul; 26(4): 465–478. Published online 2015 Oct 12. doi: 10.1111/bpa.12306

PMCID:: PMC8029081

Abstract Article PDF–5.8M

Select item 79947894.

Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

Sina Ibne Noor, Marcus Hoffmann, Natalie Rinis, Markus F. Bartels, Patrick R. Winterhalter, Christina Hoelscher, René Hennig, Nastassja Himmelreich, Christian Thiel, Thomas Ruppert, Erdmann Rapp, Sabine Strahl

J Biol Chem. 2021 Jan-Jun; 296: 100433. Published online 2021 Feb 18. doi: 10.1016/j.jbc.2021.100433

PMCID:: PMC7994789

Abstract Article PDF–2.8M

Select item 77787315.

Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP- predominant)

Paloma Gonzalez-Perez, Cheryl Smith, Wendy L. Sebetka, Amber Gedlinske, Seth Perlman, Katherine D Mathews

Neuromuscul Disord. Author manuscript; available in PMC 2021 Jan 3.

Published in final edited form as: Neuromuscul Disord. 2020 Mar; 30(3): 213–218. Published online 2020 Jan 25. doi: 10.1016/j.nmd.2020.01.002

PMCID:: PMC7778731

Abstract Article PDF–839K

Select item 62058856.

Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

Marwa M. Nabhan, Nour ElKhateeb, Daniela A. Braun, Sungho Eun, Sahar N. Saleem, Heon Yung Gee, Friedhelm Hildebrandt, Neveen A. Soliman

Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 30.

Published in final edited form as: Am J Med Genet A. 2017 Oct; 173(10): 2697–2702. Published online 2017 Aug 17. doi: 10.1002/ajmg.a.38393

PMCID:: PMC6205885

Abstract Article PDF–533K

Select item 57199257.

Illness-associated muscle weakness in dystroglycanopathies

Courtney R. Carlson, Steven D. McGaughey, Jamie M. Eskuri, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews

Neurology. 2017 Dec 5; 89(23): 2374–2380. doi: 10.1212/WNL.0000000000004720

PMCID:: PMC5719925

Abstract Article PDF–352K

Select item 48053088.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Mingchu Xu, Takeyuki Yamada, Zixi Sun, Aiden Eblimit, Irma Lopez, Feng Wang, Hiroshi Manya, Shan Xu, Li Zhao, Yumei Li, Adva Kimchi, Dror Sharon, Ruifang Sui, Tamao Endo, Robert K. Koenekoop, Rui Chen

Hum Mol Genet. 2016 Apr 15; 25(8): 1479–1488. Published online 2016 Jan 28. doi: 10.1093/hmg/ddw022

PMCID:: PMC4805308

Abstract Article PDF–650K

Select item 45147059.

Muscular dystrophies due to glycosylation defects

Francesco Muntoni, Silvia Torelli, Martin Brockington

Neurotherapeutics. 2008 Oct; 5(4): 627–632. Published online 2008 Oct 1. doi: 10.1016/j.nurt.2008.08.005

PMCID:: PMC4514705

Abstract Article PDF–220K

Select item 364151810.

Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy

Peng Zhang, Yuan Yang, Joseph Candiello, Trista L. Thorn, Noel Gray, Willi M. Halfter, Huaiyu Hu

Matrix Biol. Author manuscript; available in PMC 2014 Apr 24.

Published in final edited form as: Matrix Biol. 2013 Apr 24; 32(0): 196–207. Published online 2013 Feb 27. doi: 10.1016/j.matbio.2013.02.002

PMCID:: PMC3641518

Abstract Article PDF–3.0M

Select item 361316211.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Karen Buysse, Moniek Riemersma, Gareth Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik-Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blaser, Riyana Babul-Hirji, William Halliday, Gavin J. Wright, Derek L. Stemple, Yung-Yao Lin, Dirk J. Lefeber, Hans van Bokhoven

Hum Mol Genet. 2013 May 1; 22(9): 1746–1754. Published online 2013 Jan 28. doi: 10.1093/hmg/ddt021

PMCID:: PMC3613162

Abstract Article PDF–272K

Select item 351660312.

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet-Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clemenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bole-Feysot, Jean-Pierre Bernard, Laurence Loeuillet, Marie Gonzales, Koryna Socha, Bernard Grandchamp, Tania Attié-Bitach, Férechté Encha-Razavi, Nathalie Seta

Am J Hum Genet. 2012 Dec 7; 91(6): 1135–1143. doi: 10.1016/j.ajhg.2012.10.009

PMCID:: PMC3516603

Abstract Article PDF–375K

Select item 347653213.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

M. Pane, S. Messina, G. Vasco, A.R. Foley, L. Morandi, E. Pegoraro, T. Mongini, A. D’Amico, F. Bianco, M.E. Lombardo, R. Scalise, C. Bruno, A. Berardinelli, A. Pini, I. Moroni, M. Mora, A. Toscano, M. Moggio, G. Comi, F.M. Santorelli, E. Bertini, F. Muntoni, E. Mercuri

Neuromuscul Disord. 2012 Aug; 22(8): 685–689. doi: 10.1016/j.nmd.2012.05.006

PMCID:: PMC3476532

Abstract Article

Select item 342112514.

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Madalina Raducu, Jonathan Baets, Oihane Fano, Rudy Van Coster, Jesús Cruces

Eur J Hum Genet. 2012 Sep; 20(9): 945–952. Published online 2012 Mar 14. doi: 10.1038/ejhg.2012.40

PMCID:: PMC3421125

Abstract Article PDF–623K

Select item 340553215.

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

S. Saredi, A. Ardissone, A. Ruggieri, E. Mottarelli, L. Farina, R. Rinaldi, E. Silvestri, C. Gandioli, S. D'Arrigo, F. Salerno, L. Morandi, P. Grammatico, C. Pantaleoni, I. Moroni, M. Mora

J Neurol Sci. 2012 Jul 15; 318(1-2): 45–50. doi: 10.1016/j.jns.2012.04.008

PMCID:: PMC3405532

Abstract Article

Select item 313388116.

Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease

Josef Voglmeir, Sara Kaloo, Nicolas Laurent, Marco M. Meloni, Lisa Bohlmann, Iain B. H. Wilson, Sabine L. Flitsch

Biochem J. 2011 Jun 1; 436(Pt 2): 447–455. Prepublished online 2011 Mar 1. Published online 2011 May 13. doi: 10.1042/BJ20101059

PMCID:: PMC3133881

Abstract Article PDF–1.1M

Select item 306032517.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Nigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J Andoni Urtizberea, Tobias Willer, Rachel A Peat, Françoise Gray, Céline Bouchet, Hiroshi Manya, Sandrine Vuillaumier-Barrot, Tamao Endo, Eliane Chouery, Kevin P Campbell, André Mégarbané, Pascale Guicheney

Eur J Hum Genet. 2011 Apr; 19(4): 452–457. Published online 2011 Jan 19. doi: 10.1038/ejhg.2010.212

PMCID:: PMC3060325

Abstract Article PDF–447K

Select item 298735718.

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

Amy R Frost, Sabrina V Böhm, Raj N Sewduth, Dragana Josifova, Caroline Mackie Ogilvie, Louise Izatt, Roland G Roberts

Eur J Hum Genet. 2010 Jul; 18(7): 852–855. Published online 2010 Mar 17. doi: 10.1038/ejhg.2010.28

PMCID:: PMC2987357

Abstract Article PDF–252K

Select item 294930519.

Muscular dystrophies due to defective glycosylation of dystroglycan

F Muntoni, M Brockington, C Godfrey, M Ackroyd, S. Robb, A Manzur, M Kinali, E Mercuri, M Kaluarachchi, L Feng, C. Jimenez-Mallebrera, E Clement, S Torelli, CA Sewry, SC Brown

Acta Myol. 2007 Dec; 26(3): 129–135.

PMCID:: PMC2949305

Abstract Article PDF–287K

Select item 286039020.

A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

Cecilia Jimenez‐Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Emma Clement, Rachael Mein, Stephen Abbs, Susan C. Brown, Kevin P. Campbell, Stephan Kröger, Beril Talim, Haluk Topaloglu, Ros Quinlivan, Helen Roper, Anne M. Childs, Maria Kinali, Caroline A. Sewry, Francesco Muntoni

Brain Pathol. 2009 Oct; 19(4): 596–611. Published online 2008 Aug 8. doi: 10.1111/j.1750-3639.2008.00198.x

PMCID:: PMC2860390

Abstract Article PDF–1.5M

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