Suchergebnisse - Foley, A. Reghan

Next-generation sequencing still needs our generation's clinicians von Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.

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Spontaneous keloid formation in patients with Bethlem myopathy von Collins, James, Foley, A. Reghan, Straub, Volker, Bönnemann, Carsten G.

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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness von Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco

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Whole-genome sequencing and the clinician: a tale of two cities von Foley, A Reghan, Pitceathly, Robert D S, He, Jie, Kim, Jihee, Pearson, Nathaniel M, Muntoni, Francesco, Hanna, Michael G

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Autosomal Recessive Inheritance of Classic Bethlem Myopathy von Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Columbus, Alexandra, Shoffner, John, Dunn, Diane M., Weiss, Robert B., Bönnemann, Carsten G.

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A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome von Emmanuele, Valentina, Sotiriou, Evangelia, Gutierrez Rios, Purificación, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, H. Orhan, DiMauro, Salvatore

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Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management von Fraser, Kristin L., Wong, Scott, Foley, A. Reghan, Chhibber, Sameer, Bönnemann, Carsten G., Lesser, Daniel J., Grosmann, Carla, Rutkowski, Anne

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Hypoglycemia in patients with congenital muscle disease von Hayes, Leslie H., Yun, Pomi, Mohassel, Payam, Norato, Gina, Donkervoort, Sandra, Leach, Meganne E., Alvarez, Rachel, Rutkowski, Anne, Shaw, Natalie D., Foley, A. Reghan, Bönnemann, Carsten G.

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Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study von Batra, Abhinandan, Lott, Donovan J., Willcocks, Rebecca, Forbes, Sean C., Triplett, William, Dastgir, Jahannaz, Yun, Pomi, Foley, A. Reghan, Bönnemann, Carsten G., Vandenborne, Krista, Walter, Glenn A.

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Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies von Guadagnin, Eleonora, Mohassel, Payam, Johnson, Kory R., Yang, Lin, Santi, Mariarita, Uapinyoying, Prech, Dastgir, Jahannaz, Hu, Ying, Dillmann, Allissa, Cookson, Mark R., Foley, A. Reghan, Bönnemann, Carsten G.

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation von Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.

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Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies von Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.

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HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation von Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bönnemann, Carsten G.

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Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy von Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Yang, Michele, Medne, Līvija, Leach, Meganne, Conlin, Laura K., Spinner, Nancy, Shaikh, Tamim H., Falk, Marni, Neumeyer, Ann M., Bliss, Laurie, Tseng, Brian S., Winder, Thomas L., Bönnemann, Carsten G.

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Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy von Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha-Goebel, Diana X, Kessler, Sudha K, Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Douglas C, Bönnemann, Carsten G.

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Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations von Qualls, Anita E., Donkervoort, Sandra, Herkert, Johanna C., D’Gama, Alissa M., Bharucha-Goebel, Diana, Collins, James, Chao, Katherine R., Foley, A. Reghan, Schoots, Mirthe H., Jongbloed, Jan D.H., Bönnemann, Carsten G., Agrawal, Pankaj B.

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A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report von Sirisena, Nirmala Dushyanthi, Samaranayake, U. M. Jayami Eshana, Neto, Osorio Lopes Abath, Foley, A. Reghan, Pathirana, B. A. P. Sajeewani, Neththikumara, Nilaksha, Paththinige, C. Sampath, Rathnayake, Pyara, Donkervoort, Sandra, Bönnemann, Carsten G., Dissanayake, Vajira H. W.

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PIEZO2 mediates injury-induced tactile pain in mice and humans von Szczot, Marcin, Liljencrantz, Jaquette, Ghitani, Nima, Barik, Arnab, Lam, Ruby, Thompson, James H., Bharucha-Goebel, Diana, Saade, Dimah, Necaise, Aaron, Donkervoort, Sandra, Foley, A. Reghan, Gordon, Taylor, Case, Laura, Bushnell, M. Catherine, Bönnemann, Carsten G., Chesler, Alexander T.

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease von Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease von Mohammadi, Pejman, Castel, Stephane E., Cummings, Beryl B., Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A. Reghan, Wheeler, Heather E., Kyung Im, Hae, Bonnemann, Carsten G., MacArthur, Daniel G., Lappalainen, Tuuli

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