Результаты поиска - Laing, Nigel G.

Actinopathies and Myosinopathies по Goebel, Hans H., Laing, Nigel G.

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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus по Ravenscroft, Gianina, Laing, Nigel G., Bönnemann, Carsten G.

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Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness по Ochala, Julien, Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.

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Recent advances in understanding congenital myopathies по Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.

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Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies по Laing, Nigel G, Davis, Mark R, Bayley, Klair, Fletcher, Sue, Wilton, Steve D

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Clinical utility gene card for: Nemaline myopathy по Nowak, Kristen J, Davis, Mark R, Wallgren-Pettersson, Carina, Lamont, Phillipa J, Laing, Nigel G

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Clinical Utility Gene Card for: Becker muscular dystrophy по Coote, David, Davis, Mark R., Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G., Nowak, Kristen J.

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CUGC for Duchenne muscular dystrophy (DMD) по Coote, David J., Davis, Mark R., Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G., Nowak, Kristen J.

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Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease) по Coote, David J., Davis, Mark R., Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G., Nowak, Kristen J.

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Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel по Goullée, Hayley, Taylor, Rhonda L., Forrest, Alistair R. R., Laing, Nigel G., Ravenscroft, Gianina, Clayton, Joshua S.

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The exon 55 deletion in the nebulin gene - one single founder mutation with world-wide occurrence по Lehtokari, Vilma-Lotta, Greenleaf, Rebecca S., DeChene, Elizabeth T., Kellinsalmi, Mutsumi, Pelin, Katarina, Laing, Nigel G., Beggs, Alan H., Wallgren-Pettersson, Carina

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Nemaline myopathy type 6: clinical and myopathological features по Olivé, Montse, Goldfarb, Lev G, Lee, Hee-Suk, Odgerel, Zagaa, Blokhin, Andre, Gonzalez-Mera, Laura, Moreno, Dolores, Laing, Nigel G, Sambuughin, Nyamkhishig

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Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study по Sedghi, Maryam, Moslemi, Ali‐Reza, Olive, Montse, Etemadifar, Masoud, Ansari, Behnaz, Nasiri, Jafar, Emrahi, Leila, Mianesaz, Hamid‐Reza, Laing, Nigel G., Tajsharghi, Homa

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Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy по Ilkovski, Biljana, Mokbel, Nancy, Lewis, Raymond A., Walker, Kendall, Nowak, Kristen J., Domazetovska, Ana, Laing, Nigel G., Fowler, Velia M., North, Kathryn N., Cooper, Sandra T.

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Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction по Lee, Richard G., Sedghi, Maryam, Salari, Mehri, Shearwood, Anne-Marie J., Stentenbach, Maike, Kariminejad, Ariana, Goullee, Hayley, Rackham, Oliver, Laing, Nigel G., Tajsharghi, Homa, Filipovska, Aleksandra

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STRetch: detecting and discovering pathogenic short tandem repeat expansions по Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S., Laing, Nigel G., MacArthur, Daniel G., Oshlack, Alicia

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High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report по Mc Glacken-Byrne, Aisling B., Prentice, David, Roshandel, Danial, Brown, Michael R., Tuch, Philip, Yau, Kyle S.-Y., Sivadorai, Padma, Davis, Mark R., Laing, Nigel G., Chen, Fred K.

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Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation по Boutilier, Jordan K., Taylor, Rhonda L., Mann, Tracy, McNamara, Elyshia, Hoffman, Gary J., Kenny, Jacob, Dilley, Rodney J., Henry, Peter, Morahan, Grant, Laing, Nigel G., Nowak, Kristen J.

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Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2 по Agrawal, Pankaj B., Greenleaf, Rebecca S., Tomczak, Kinga K., Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Wallefeld, William, Laing, Nigel G., Darras, Basil T., Maciver, Sutherland K., Dormitzer, Philip R., Beggs, Alan H.

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Approach to the diagnosis of congenital myopathies по North, Kathryn N., Wang, Ching H., Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J., Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H., Sewry, Caroline, Laing, Nigel G., Bönnemann, Carsten G.

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