Next-generation sequencing still needs our generation's clinicians

por Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.
Publicado 2015

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

por Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco
Publicado 2020

Whole-genome sequencing and the clinician: a tale of two cities

por Foley, A Reghan, Pitceathly, Robert D S, He, Jie, Kim, Jihee, Pearson, Nathaniel M, Muntoni, Francesco, Hanna, Michael G
Publicado 2014

Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

por Fraser, Kristin L., Wong, Scott, Foley, A. Reghan, Chhibber, Sameer, Bönnemann, Carsten G., Lesser, Daniel J., Grosmann, Carla, Rutkowski, Anne
Publicado 2017

Hypoglycemia in patients with congenital muscle disease

por 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.
Publicado 2020

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

por 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.
Publicado 2021

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation

por 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.
Publicado 2017

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

por 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.
Publicado 2021

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado 2013

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado 2013

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

por Mohassel, Payam, Landon-Cardinal, Océane, Foley, A. Reghan, Donkervoort, Sandra, Pak, Katherine S., Wahl, Colleen, Shebert, Robert T., Harper, Amy, Fequiere, Pierre, Meriggioli, Matthew, Toro, Camilo, Drachman, Daniel, Allenbach, Yves, Benveniste, Olivier, Béhin, Anthony, Eymard, Bruno, Lafôret, Pascal, Stojkovic, Tanya, Mammen, Andrew L., Bönnemann, Carsten G.
Publicado 2018

An ultrafast system for signaling mechanical pain in human skin

por Nagi, Saad S., Marshall, Andrew G., Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderström, Mikael, Shaikh, Sumaiya, O’Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A. Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bönnemann, Carsten G., Chesler, Alexander T., Bushnell, M. Catherine, McGlone, Francis, Olausson, Håkan
Publicado 2019

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

por Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Publicado 2023

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

por Case, Laura K., Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L., Szczot, Marcin, Pitcher, Mark H., Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A. Reghan, Bönnemann, Carsten G., Olausson, Håkan, Bushnell, M. Catherine, Chesler, Alexander T.
Publicado 2021

Dominant collagen XII mutations cause a distal myopathy

por Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Publicado 2019

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

por Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Geist Hauserman, Janelle, Cummings, Beryl B, Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S, Ghosh, Partha S, Monaghan, Kristin G, Edassery, Seby L, Ferle, Pia E, Silverstein, Sarah, Chao, Katherine R, Snyder, Molly, Ellingwood, Sara, Bharucha‐Goebel, Diana, Iannaccone, Susan T, Dal Peraro, Matteo, Foley, A Reghan, Savas, Jeffrey N, Bolduc, Véronique, Fasshauer, Dirk, Bönnemann, Carsten G, Schwake, Michael
Publicado 2021

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

por Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.
Publicado 2018

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

por Foley, A. Reghan, Zou, Yaqun, Dunford, James E., Rooney, Jachinta, Chandra, Goutam, Xiong, Hui, Straub, Volker, Voit, Thomas, Romero, Norma, Donkervoort, Sandra, Hu, Ying, Markello, Thomas, Horn, Adam, Qebibo, Leila, Dastgir, Jahannaz, Meilleur, Katherine G., Finkel, Richard S., Fan, Yanbin, Mamchaoui, Kamel, Duguez, Stephanie, Nelson, Isabelle, Laporte, Jocelyn, Santi, Mariarita, Malfatti, Edoardo, Maisonobe, Thierry, Touraine, Philippe, Hirano, Michio, Hughes, Imelda, Bushby, Kate, Oppermann, Udo, Böhm, Johann, Jaiswal, Jyoti K., Stojkovic, Tanya, Bönnemann, Carsten G.
Publicado 2020

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

por Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.
Publicado 2019

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

por Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O’Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Publicado 2021