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Select item 107893341.

Synnøve M. Jensen, Oddgeir Friborg, Svein Ivar Mellgren, Kai Ivar Müller, Svein Bergvik, Kjell Arne Arntzen

J Neuromuscul Dis. 2024; 11(1): 59–74. Prepublished online 2023 Oct 31. Published online 2024 Jan 2. doi: 10.3233/JND-221629

PMCID:: PMC10789334

Abstract Article PDF–465K

Select item 107701972.

Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Synnøve Jensen, Karin Abeler, Oddgeir Friborg, Assami Rosner, Caroline Olsborg, Svein Ivar Mellgren, Kai Ivar Müller, Andreas Dybesland Rosenberger, Monica L. Vold, Kjell Arne Arntzen

J Neurol. 2024; 271(1): 274–288. Published online 2023 Sep 11. doi: 10.1007/s00415-023-11978-7

PMCID:: PMC10770197

Abstract Article PDF–736K

Select item 103571423.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

J Neuromuscul Dis. 2023; 10(4): 615–626. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-221618

PMCID:: PMC10357142

Abstract Article PDF–750K

Select item 86571964.

Carolina Ortiz-Cordero, Karim Azzag, Rita C.R. Perlingeiro

Trends Cell Biol. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Trends Cell Biol. 2021 Mar; 31(3): 197–210. Published online 2020 Dec 1. doi: 10.1016/j.tcb.2020.11.003

PMCID:: PMC8657196

Abstract Article PDF–1.6M

Select item 85810535.

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies

Carolina Ortiz-Cordero, Claudia Bincoletto, Neha R. Dhoke, Sridhar Selvaraj, Alessandro Magli, Haowen Zhou, Do-Hyung Kim, Anne G. Bang, Rita C.R. Perlingeiro

Stem Cell Reports. 2021 Nov 9; 16(11): 2752–2767. Published online 2021 Oct 14. doi: 10.1016/j.stemcr.2021.09.009

PMCID:: PMC8581053

Abstract Article PDF–6.7M

Select item 77137536.

Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up

Amber M. Gedlinske, Carrie M. Stephan, Shelley R.H. Mockler, Katie M. Laubscher, Karla S. Laubenthal, Cameron D. Crockett, M. Bridget Zimmerman, Katherine D. Mathews

Neurology. 2020 Oct 13; 95(15): e2131–e2139. doi: 10.1212/WNL.0000000000010604

PMCID:: PMC7713753

Abstract Article PDF–353K

Select item 76932307.

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related

Eric M. Libell, Julia A. Richardson, Katie L. Lutz, Benton Y. Ng, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, Bridget M. Zimmerman, Erik R. Edens, Benjamin E. Reinking, Katherine D. Mathews

Muscle Nerve. 2020 Nov; 62(5): 626–632. Published online 2020 Sep 10. doi: 10.1002/mus.27052

PMCID:: PMC7693230

Abstract Article PDF–1.1M

Select item 73891738.

先天性肌营养不良1C型1例临床特点和FKRP基因突变分析

洪晓文, 陈燕惠

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Sep 25; 20(9): 765–768. Chinese. doi: 10.7499/j.issn.1008-8830.2018.09.014

PMCID:: PMC7389173

Abstract Article PDF–1.4M

Select item 72617619.

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub

Ann Clin Transl Neurol. 2020 May; 7(5): 757–766. Published online 2020 Apr 28. doi: 10.1002/acn3.51042

PMCID:: PMC7261761

Abstract Article PDF–586K

Select item 696513910.

Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy

Naoyuki Kuwabara, Rieko Imae, Hiroshi Manya, Tomohiro Tanaka, Mamoru Mizuno, Hiroki Tsumoto, Motoi Kanagawa, Kazuhiro Kobayashi, Tatsushi Toda, Toshiya Senda, Tamao Endo, Ryuichi Kato

Nat Commun. 2020; 11: 303. Published online 2020 Jan 16. doi: 10.1038/s41467-019-14220-z

PMCID:: PMC6965139

Abstract Article PDF–1.7M

Select item 599647011.

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

Zhiying Xie, Jiangxi Xiao, Yiming Zheng, Zhaoxia Wang, Yun Yuan

Biomed Res Int. 2018; 2018: 3710814. Published online 2018 May 29. doi: 10.1155/2018/3710814

PMCID:: PMC5996470

Abstract Article PDF–2.5M

Select item 316028512.

Maisoon Alhamidi, Elisabeth Kjeldsen Buvang, Toril Fagerheim, Vigdis Brox, Sigurd Lindal, Marijke Van Ghelue, Øivind Nilssen

PLoS One. 2011; 6(8): e22968. Published online 2011 Aug 23. doi: 10.1371/journal.pone.0022968

PMCID:: PMC3160285

Abstract Article PDF–1.6M

Select item 256990013.

Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

Lydia U. Yamamoto, Fernando J. Velloso, Bruno L. Lima, Luciana L.Q. Fogaça, Flávia de Paula, Natássia M. Vieira, Mayana Zatz, Mariz Vainzof

J Histochem Cytochem. 2008 Nov; 56(11): 995–1001. doi: 10.1369/jhc.2008.951772

PMCID:: PMC2569900

Abstract Article PDF–910K

Select item 173577214.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

d Beltran-Valero, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W Dobyns, H Brunner, H van Bokhoven, M Brockington, F Muntoni

J Med Genet. 2004 May; 41(5): e61. doi: 10.1136/jmg.2003.013870

PMCID:: PMC1735772

Summary PDF–408K

Select item 1097743915.

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation

Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi, Anthony Blaeser

J Neuromuscul Dis. 2024; 11(2): 275–284. Prepublished online 2024 Jan 18. Published online 2024 Mar 5. doi: 10.3233/JND-230205

PMCID:: PMC10977439

Abstract Article PDF–627K

Select item 689591516.

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García

Genes (Basel) 2019 Nov; 10(11): 856. Published online 2019 Oct 29. doi: 10.3390/genes10110856

PMCID:: PMC6895915

Abstract Article PDF–783K

Select item 578374317.

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes

Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto

Mol Vis. 2018; 24: 43–58. Published online 2018 Jan 20.

PMCID:: PMC5783743

Abstract Article PDF–27M

Select item 505347718.

Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice

Anthony Blaeser, Hiroyuki Awano, Bo Wu, Qi-Long Lu

PLoS One. 2016; 11(10): e0164187. Published online 2016 Oct 6. doi: 10.1371/journal.pone.0164187

PMCID:: PMC5053477

Abstract Article PDF–3.0M

Select item 308582119.

SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

Lea Papić, Dirk Fischer, Slave Trajanoski, Romana Höftberger, Carina Fischer, Thomas Ströbel, Wolfgang M. Schmidt, Reginald E. Bittner, Maria Schabhüttl, Karin Gruber, Thomas R. Pieber, Andreas R. Janecke, Michaela Auer-Grumbach

Eur J Med Genet. 2011 May; 54(3): 214–219. doi: 10.1016/j.ejmg.2010.12.003

PMCID:: PMC3085821

Abstract Article

Select item 224464720.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Neurogenetics. Author manuscript; available in PMC 2008 Feb 20.

Published in final edited form as: Neurogenetics. 2004 Feb; 5(1): 27–34. Published online 2003 Dec 2. doi: 10.1007/s10048-003-0165-9

PMCID:: PMC2244647

Abstract Article

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