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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2268, doi. 10.1002/acn3.52127
By:
- Mohan, Shruthi;
- McNulty, Shannon;
- Thaxton, Courtney;
- Elnagheeb, Marwa;
- Owens, Emma;
- Flowers, May;
- Nunnery, Teagan;
- Self, Autumn;
- Palus, Brooke;
- Gorokhova, Svetlana;
- Kennedy, April;
- Niu, Zhiyv;
- Johari, Mridul;
- Maiga, Alassane Baneye;
- Macalalad, Kelly;
- Clause, Amanda R.;
- Beckmann, Jacques S.;
- Bronicki, Lucas;
- Cooper, Sandra T.;
- Ganesh, Vijay S.
Publication type:
Article
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Published in:
2013
By:
- Riley, Lisa G.;
- Menezes, Minal J.;
- Rudinger-Thirion, Joëlle;
- Duff, Rachael;
- de Lonlay, Pascale;
- Rotig, Agnes;
- Tchan, Michel C.;
- Davis, Mark;
- Cooper, Sandra T.;
- Christodoulou, John
Publication type:
journal article
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 10, p. 1, doi. 10.1002/mgg3.70017
By:
- Chung, Clara W. T.;
- Bournazos, Adam M.;
- Chan, Lok Chi Denise;
- Sarkozy, Vanessa;
- Lawson, John;
- Kennedy, Sean E.;
- Cooper, Sandra T.;
- Kirk, Edwin P.;
- Mowat, David
Publication type:
Article
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29271-y
By:
- Dawes, Ruebena;
- Joshi, Himanshu;
- Cooper, Sandra T.
Publication type:
Article
Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair.
Published in:
Science Signaling, 2017, v. 10, n. 495, p. 1, doi. 10.1126/scisignal.aao3795
By:
- Cooper, Sandra T.
Publication type:
Article
Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric disorders.
Published in:
Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0397-1
By:
- Sinmaz, Nese;
- Tea, Fiona;
- Pilli, Deepti;
- Zou, Alicia;
- Amatoury, Mazen;
- Nguyen, Tina;
- Merheb, Vera;
- Ramanathan, Sudarshini;
- Cooper, Sandra T.;
- Dale, Russell C.;
- Brilot, Fabienne
Publication type:
Article
Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104879
By:
- Miller, David K.;
- Menezes, Minal J.;
- Simons, Cas;
- Riley, Lisa G.;
- Cooper, Sandra T.;
- Grimmond, Sean M.;
- Thorburn, David R.;
- Christodoulou, John;
- Taft, Ryan J.
Publication type:
Article
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.
Published in:
Muscle & Nerve, 2011, v. 44, n. 2, p. 280, doi. 10.1002/mus.22118
By:
- Waddell, Leigh B.;
- Monnier, Nicole;
- Cooper, Sandra T.;
- North, Kathryn N.;
- Clarke, Nigel F.
Publication type:
Article
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0081-z
By:
- Dawes, Ruebena;
- Lek, Monkol;
- Cooper, Sandra T.
Publication type:
Article
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0081-z
By:
- Dawes, Ruebena;
- Lek, Monkol;
- Cooper, Sandra T.
Publication type:
Article
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0006-7
By:
- Schofield, Deborah;
- Alam, Khurshid;
- Douglas, Lyndal;
- Shrestha, Rupendra;
- MacArthur, Daniel G.;
- Davis, Mark;
- Laing, Nigel G.;
- Clarke, Nigel F.;
- Burns, Joshua;
- Cooper, Sandra T.;
- North, Kathryn N.;
- Sandaradura, Sarah A.;
- O'Grady, Gina L.
Publication type:
Article
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.
Published in:
Cardiovascular Research, 2016, v. 110, n. 2, p. 178, doi. 10.1093/cvr/cvw017
By:
- Lemckert, Frances A.;
- Bournazos, Adam;
- Eckert, Daniel M.;
- Kenzler, Manuel;
- Hawkes, Joanne M.;
- Butler, Tanya L.;
- Ceely, Bradley;
- North, Kathryn N.;
- S.Winlaw, David;
- Egan, Jonathan R.;
- Cooper, Sandra T.
Publication type:
Article
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.
Published in:
Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-022-01473-x
By:
- Yasa, Joe;
- Reed, Claudia E.;
- Bournazos, Adam M.;
- Evesson, Frances J.;
- Pang, Ignatius;
- Graham, Mark E.;
- Wark, Jesse R.;
- Nijagal, Brunda;
- Kwan, Kim H.;
- Kwiatkowski, Thomas;
- Jung, Rachel;
- Weisleder, Noah;
- Cooper, Sandra T.;
- Lemckert, Frances A.
Publication type:
Article
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.
Published in:
JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274
By:
- Ghaoui, Roula;
- Cooper, Sandra T.;
- Lek, Monkol;
- Jones, Kristi;
- Corbett, Alastair;
- Reddel, Stephen W.;
- Needham, Merrilee;
- Liang, Christina;
- Waddell, Leigh B.;
- Nicholson, Garth;
- O'Grady, Gina;
- Kaur, Simranpreet;
- Ong, Royston;
- Davis, Mark;
- Sue, Carolyn M.;
- Laing, Nigel G.;
- North, Kathryn N.;
- MacArthur, Daniel G.;
- Clarke, Nigel F.
Publication type:
Article
The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.
Published in:
Frontiers in Physiology, 2016, v. 7, p. 1, doi. 10.3389/fphys.2016.00454
By:
- Serebryannyy, Leonid A.;
- Parilla, Megan;
- de Lanerolle, Primal;
- Yuen, Michaela;
- Cooper, Sandra T.
Publication type:
Article
Mechanisms underlying intranuclear rod formation.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3275, doi. 10.1093/brain/awm247
By:
- Ana Domazetovska;
- Biljana Ilkovski;
- Sandra T. Cooper;
- Majid Ghoddusi;
- Edna C. Hardeman;
- Laurie S. Minamide;
- Peter W. Gunning;
- James R. Bamburg;
- Kathryn N. North
Publication type:
Article
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.
Published in:
Acta Neuropathologica, 2008, v. 116, n. 3, p. 235, doi. 10.1007/s00401-008-0369-z
By:
- Au, Carol G.;
- Butler, Tanya L.;
- Egan, Jonathan R.;
- Cooper, Sandra T.;
- Lo, Harriet P.;
- Compton, Alison G.;
- North, Kathryn N.;
- Winlaw, David S.
Publication type:
Article
Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins.
Published in:
Traffic, 2016, v. 17, n. 3, p. 245, doi. 10.1111/tra.12370
By:
- Redpath, Gregory M. I.;
- Sophocleous, Reece A.;
- Turnbull, Lynne;
- Whitchurch, Cynthia B.;
- Cooper, Sandra T.
Publication type:
Article
Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair.
Published in:
Traffic, 2012, v. 13, n. 2, p. 185, doi. 10.1111/j.1600-0854.2011.01267.x
By:
- Lek, Angela;
- Evesson, Frances J.;
- Sutton, R. Bryan;
- North, Kathryn N.;
- Cooper, Sandra T.
Publication type:
Article
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035
By:
- Evesson, Frances J;
- Dziaduch, Gregory;
- Bryen, Samantha J;
- Moore, Francesca;
- Pittman, Sara;
- Devanapalli, Beena;
- Waddell, Leigh B;
- Ryan, Monique M;
- Menezes, Manoj P;
- Weihl, Conrad C;
- Tolun, Adviye Ayper;
- Zaidman, Craig;
- Young, Helen;
- Adès, Lesley C;
- Cooper, Sandra T
Publication type:
Article
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.
Published in:
Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1055639
By:
- Katz, Matthew;
- Waddell, Leigh B.;
- Yuen, Michaela;
- Bryen, Samantha J.;
- Oates, Emily;
- Garton, Fleur C.;
- Robertson, Thomas;
- Henderson, Robert David;
- Cooper, Sandra T.;
- McCombe, Pamela A.
Publication type:
Article
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 553, doi. 10.1111/cge.14311
By:
- Bryen, Samantha J.;
- Zhang, Katharine;
- Dziaduch, Gregory;
- Bommireddipalli, Shobhana;
- Naseri, Take;
- Reupena, Muagututi'a Sefuiva;
- Viali, Satupa'itea;
- Minster, Ryan L.;
- Waddell, Leigh B.;
- Charlton, Amanda;
- O'Grady, Gina L.;
- Evesson, Frances J.;
- Cooper, Sandra T.
Publication type:
Article
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Published in:
Annals of Neurology, 2007, v. 62, n. 6, p. 597, doi. 10.1002/ana.21200
By:
- Domazetovska, Ana;
- Ilkovski, Biljana;
- Kumar, Vikash;
- Valova, Valentina A.;
- Vandebrouck, Aurelie;
- Hutchinson, David O.;
- Robinson, Phillip J.;
- Cooper, Sandra T.;
- Sparrow, John C.;
- Peckham, Michelle;
- North, Kathryn N.
Publication type:
Article
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156
By:
- Mingirulli, Nadja;
- Pyle, Angela;
- Hathazi, Denisa;
- Alston, Charlotte L.;
- Kohlschmidt, Nicolai;
- O'Grady, Gina;
- Waddell, Leigh;
- Evesson, Frances;
- Cooper, Sandra B. T.;
- Turner, Christian;
- Duff, Jennifer;
- Topf, Ana;
- Yubero, Delia;
- Jou, Cristina;
- Nascimento, Andrés;
- Ortez, Carlos;
- García‐Cazorla, Angels;
- Gross, Claudia;
- O'Callaghan, Maria;
- Santra, Saikat
Publication type:
Article
Membrane Injury and Repair in the Muscular Dystrophies.
Published in:
Neuroscientist, 2015, v. 21, n. 6, p. 653, doi. 10.1177/1073858414558336
By:
- Cooper, Sandra T.;
- Head, Stewart I.
Publication type:
Article
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 4, p. 577, doi. 10.1093/hmg/ddx423
By:
- Summers, Matthew A.;
- Rupasinghe, Thusitha;
- Vasiljevski, Emily R.;
- Evesson, Frances J.;
- Mikulec, Kathy;
- Peacock, Lauren;
- Quinlan, Kate G. R.;
- Cooper, Sandra T.;
- Roessner, Ute;
- Stevenson, David A.;
- Little, David G.;
- Schindeler, Aaron
Publication type:
Article
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 22, p. 6278, doi. 10.1093/hmg/ddv334
By:
- Yuen, Michaela;
- Cooper, Sandra T.;
- Marston, Steve B.;
- Nowak, Kristen J.;
- McNamara, Elyshia;
- Mokbel, Nancy;
- Ilkovski, Biljana;
- Ravenscroft, Gianina;
- Rendu, John;
- de Winter, Josine M.;
- Klinge, Lars;
- Beggs, Alan H.;
- North, Kathryn N.;
- Ottenheijm, Coen A. C.;
- Clarke, Nigel F.
Publication type:
Article
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 8, p. 2297, doi. 10.1093/hmg/ddu747
By:
- Menezes, Minal J.;
- Yiran Guo;
- Jianguo Zhang;
- Riley, Lisa G.;
- Cooper, Sandra T.;
- Thorburn, David R.;
- Jiankang Li;
- Dong, Daoyuan;
- Zhijun Li;
- Glessner, Joseph;
- Davis, Ryan L.;
- Sue, Carolyn M.;
- Alexander, Stephen I.;
- Arbuckle, Susan;
- Kirwan, Paul;
- Keating, Brendan J.;
- Xun Xu;
- Hakon Hakonarson;
- Christodoulou, John
Publication type:
Article
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Published in:
Human Mutation, 2020, v. 41, n. 11, p. 1884, doi. 10.1002/humu.24101
By:
- Akesson, Lauren S.;
- Bournazos, Adam;
- Fennell, Andrew;
- Krzesinski, Emma I.;
- Tan, Kenneth;
- Springer, Amanda;
- Rose, Katherine;
- Goranitis, Ilias;
- Francis, David;
- Lee, Crystle;
- Faiz, Fathimath;
- Davis, Mark R.;
- Christodoulou, John;
- Lunke, Sebastian;
- Stark, Zornitza;
- Hunter, Matthew F.;
- Cooper, Sandra T.
Publication type:
Article
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
By:
- Sandaradura, Sarah A.;
- Bournazos, Adam;
- Mallawaarachchi, Amali;
- Cummings, Beryl B.;
- Waddell, Leigh B.;
- Jones, Kristi J.;
- Troedson, Christopher;
- Sudarsanam, Annapurna;
- Nash, Benjamin M.;
- Peters, Gregory B.;
- Algar, Elizabeth M.;
- MacArthur, Daniel G.;
- North, Kathryn N.;
- Brammah, Susan;
- Charlton, Amanda;
- Laing, Nigel G.;
- Wilson, Meredith J.;
- Davis, Mark R.;
- Cooper, Sandra T.
Publication type:
Article
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Published in:
Human Mutation, 2010, v. 31, n. 7, p. E1544, doi. 10.1002/humu.21278
By:
- Clarke, Nigel F.;
- Waddell, Leigh B.;
- Cooper, Sandra T.;
- Perry, Margaret;
- Smith, Robert L.L.;
- Kornberg, Andrew J.;
- Muntoni, Francesco;
- Lillis, Suzanne;
- Straub, Volker;
- Bushby, Kate;
- Guglieri, Michela;
- King, Mary D.;
- Farrell, Michael A.;
- Marty, Isabelle;
- Lunardi, Joel;
- Monnier, Nicole;
- North, Kathryn N.
Publication type:
Article
Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function.
Published in:
Journal of Cachexia, Sarcopenia & Muscle, 2019, v. 10, n. 6, p. 1228, doi. 10.1002/jcsm.12460
By:
- Girgis, Christian M.;
- Cha, Kuan Minn;
- So, Benjamin;
- Tsang, Michael;
- Chen, Jennifer;
- Houweling, Peter J.;
- Schindeler, Aaron;
- Stokes, Rebecca;
- Swarbrick, Michael M.;
- Evesson, Frances J.;
- Cooper, Sandra T.;
- Gunton, Jenny E.
Publication type:
Article
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 1, p. 129, doi. 10.1093/hmg/ddi434
By:
- Hernández-Deviez, Delia J.;
- Martin, Sally;
- Laval, Steven H.;
- Lo, Harriet P.;
- Cooper, Sandra T.;
- North, Kathryn N.;
- Bushby, Kate;
- Parton, Robert G.
Publication type:
Article
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 16, p. 1727, doi. 10.1093/hmg/ddh185
By:
- Ilkovski, Biljana;
- Nowak, Kristen J.;
- Domazetovska, Ana;
- Maxwell, Adam L.;
- Clement, Sophie;
- Davies, Kay E.;
- Laing, Nigel G.;
- North, Kathryn N.;
- Cooper, Sandra T.
Publication type:
Article
Host Cell-Specific Folding of the Neuronal Nicotinic Receptor α8 Subunit.
Published in:
Journal of Neurochemistry, 1998, v. 70, n. 6, p. 2585, doi. 10.1046/j.1471-4159.1998.70062585.x
By:
- Cooper, Sandra T.;
- Millar, Neil S.
Publication type:
Article
Host Cell-Specific Folding and Assembly of the Neuronal Nicotinic Acetylcholine Receptor α7 Subunit.
Published in:
Journal of Neurochemistry, 1997, v. 68, n. 5, p. 2140, doi. 10.1046/j.1471-4159.1997.68052140.x
By:
- Cooper, Sandra T.;
- Millar, Neil S.
Publication type:
Article
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.
Published in:
BMC Evolutionary Biology, 2010, v. 10, p. 231, doi. 10.1186/1471-2148-10-231
By:
- Lek, Angela;
- Lek, Monkol;
- North, Kathryn N.;
- Cooper, Sandra T.
Publication type:
Article
Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair.
Published in:
Journal of Neuroscience, 2013, v. 33, n. 12, p. 5085, doi. 10.1523/JNEUROSCI.3560-12.2013
By:
- Lek, Angela;
- Evesson, Frances J.;
- Lemckert, Frances A.;
- Redpath, Gregory M. I.;
- Lueders, Ann-Katrin;
- Turnbull, Lynne;
- Whitchurch, Cynthia B.;
- North, Kathryn N.;
- Cooper, Sandra T.
Publication type:
Article

Found: 38

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data.

Ca<sup>2+</sup> and mitochondrial ROS: Both hero and villain in membrane repair.

Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric disorders.

Rapid Identification of a Novel Complex I <i>MT-ND3 </i>m.10134C>A Mutation in a Leigh Syndrome Patient.

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.

The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.

Mechanisms underlying intranuclear rod formation.

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.

Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins.

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders.

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Membrane Injury and Repair in the Muscular Dystrophies.

Dietary intervention rescues myopathy associated with neurofibromatosis type 1.

Muscle weakness in TPM3-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function.

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Host Cell-Specific Folding of the Neuronal Nicotinic Receptor α8 Subunit.

Host Cell-Specific Folding and Assembly of the Neuronal Nicotinic Acetylcholine Receptor α7 Subunit.

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

Calpains, Cleaved Mini-Dysferlin<sub>C72</sub>, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair.