Do absorption and realistic distraction influence performance of component task surgical procedure?

av Pluyter, Jon R., Buzink, Sonja N., Rutkowski, Anne-F., Jakimowicz, Jack J.
Publicerad 2009

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

av Fraser, Kristin L., Wong, Scott, Foley, A. Reghan, Chhibber, Sameer, Bönnemann, Carsten G., Lesser, Daniel J., Grosmann, Carla, Rutkowski, Anne
I publikationen ERJ Open Res (2017)

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

av Valencia, C. Alexander, Rhodenizer, Devin, Bhide, Shruti, Chin, Ephrem, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Bonnemann, Carsten, Hegde, Madhuri
Publicerad 2012

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

av Valencia, C. Alexander, Ankala, Arunkanth, Rhodenizer, Devin, Bhide, Shruti, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Sparks, Susan, Bonnemann, Carsten, Hegde, Madhuri
Publicerad 2013

A natural history study of X-linked myotubular myopathy

av Amburgey, Kimberly, Tsuchiya, Etsuko, de Chastonay, Sabine, Glueck, Michael, Alverez, Rachel, Nguyen, Cam-Tu, Rutkowski, Anne, Hornyak, Joseph, Beggs, Alan H., Dowling, James J.
I publikationen Neurology (2017)

Adherence and Barriers to Hyperinsufflation in Children with Congenital Muscular Dystrophy

av Pascoe, John E., Sawnani, Hemant, Mayer, Oscar H., McConnell, Keith, McDonough, Joseph M., White, Cynthia, Rutkowski, Anne M., Amin, Raouf S., Modi, Avani C.
I publikationen Pediatr Pulmonol (2016)

Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy(2J) Mouse Model of Congenital Muscular Dystrophy

av Yu, Qing, Sali, Arpana, Van der Meulen, Jack, Creeden, Brittany K., Gordish-Dressman, Heather, Rutkowski, Anne, Rayavarapu, Sree, Uaesoontrachoon, Kitipong, Huynh, Tony, Nagaraju, Kanneboyina, Spurney, Christopher F.
Publicerad 2013

Common Data Elements for Muscle Biopsy Reporting

av Dastgir, Jahannaz, Rutkowski, Anne, Alvarez, Rachel, Cossette, Stacy A., Yan, Ke, Hoffmann, Raymond G., Sewry, Caroline, Hayashi, Yukiko K., Goebel, Hans-Hilmar, Bonnemann, Carsten, Lawlor, Michael W.
I publikationen Arch Pathol Lab Med (2015)

Hypoglycemia in patients with congenital muscle disease

av 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.
I publikationen BMC Pediatr (2020)

Report on the Myomatrix Conference April 22–24, 2012, University of Nevada, Reno, Nevada, USA

av Rutkowski, Anne, Bönnemann, Carsten, Brown, Susan, Sólveig, Thorsteinsdóttir, Dominov, Janice, Ruegg, Markus A., Matter, Michelle L., Guttridge, Denis, Crosbie-Watson, Rachelle H., Kardon, Gabrielle, Nagaraju, Kanneboyina, Girgenrath, Mahasweta, Burkin, Dean J.
I publikationen Neuromuscul Disord (2012)

Diagnostic approach to the congenital muscular dystrophies

av Bönnemann, Carsten G., Wang, Ching H., Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D., Moore, Steven A., Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N.
I publikationen Neuromuscul Disord (2014)

English Cross-Cultural Translation and Validation of the Neuromuscular Score: A System for Motor Function Classification in Patients With Neuromuscular Diseases

av Vuillerot, Carole, Meilleur, Katherine G., Jain, Minal, Waite, Melissa, Wu, Tianxia, Linton, Melody, Datsgir, Jahannaz, Donkervoort, Sandra, Leach, Meganne E., Rutkowski, Anne, Rippert, Pascal, Payan, Christine, Iwaz, Jean, Hamroun, Dalil, Bérard, Carole, Poirot, Isabelle, Bönnemann, Carsten G.
I publikationen Arch Phys Med Rehabil (2014)

Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy

av Willmann, Raffaella, Gordish-Dressman, Heather, Meinen, Sarina, Rüegg, Markus A., Yu, Qing, Nagaraju, Kanneboyina, Kumar, Ayar, Girgenrath, Mahasweta, Coffey, Caroline B.M., Cruz, Vivian, Van Ry, Pam M., Bogdanik, Laurent, Lutz, Cathleen, Rutkowski, Anne, Burkin, Dean J.
I publikationen J Neuromuscul Dis (2017)

Comparison of Sitting and Supine Forced Vital Capacity in Collagen VI-Related Dystrophy and Laminin α2-Related Dystrophy

av Meilleur, Katherine G., Linton, Melody M., Fontana, Joseph, Rutkowski, Anne, Elliott, Jeffrey, Barton, Mark, McGraw, Peter, Kokkinis, Angela, Donkervoort, Sandra, Leach, Meganne, Jain, Minal, Dastgir, Jahannaz, Collins, James, Szczesniak, Rhonda, Yang, Kelly, Sawnani, Hemant, Bönnemann, Carsten G.
I publikationen Pediatr Pulmonol (2017)

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy o...

av Kang, Peter B., Morrison, Leslie, Iannaccone, Susan T., Graham, Robert J., Bönnemann, Carsten G., Rutkowski, Anne, Hornyak, Joseph, Wang, Ching H., North, Kathryn, Oskoui, Maryam, Getchius, Thomas S.D., Cox, Julie A., Hagen, Erin E., Gronseth, Gary, Griggs, Robert C.
I publikationen Neurology (2015)

ELECTRICAL IMPEDANCE MYOGRAPHY IN INDIVIDUALS WITH COLLAGEN 6 AND LAMININ α-2 CONGENITAL MUSCULAR DYSTROPHY: A CROSS-SECTIONAL AND 2-YEAR ANALYSIS

av NICHOLS, CARMEL, JAIN, MINAL S., MEILLEUR, KATHERINE G., WU, TIANXIA, COLLINS, JAMES, WAITE, MELISSA R., DASTGIR, JAHANNAZ, SALMAN, ANAM, DONKERVOORT, SANDRA, DUONG, TINA, KELLER, KATHERINE, LEACH, MEGANNE E., LOTT, DONOVAN J., MCGUIRE, MICHELLE N., NELSON, LESLIE, RUTKOWSKI, ANNE, VUILLEROT, CAROLE, BÖNNEMANN, CARSTEN G., LEHKY, TANYA J.
I publikationen Muscle Nerve (2017)

Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy

av Bendixen, Roxanna M., Butrum, Jocelyn, Jain, Mina S., Parks, Rebecca, Hodsdon, Bonnie, Nichols, Carmel, Hsia, Michelle, Nelson, Leslie, Keller, Katherine C., McGuire, Michelle, Elliott, Jeffrey S., Linton, Melody M., Arveson, Irene C., Tounkara, Fatou, Vasavada, Ruhi, Harnett, Elizabeth, Punjabi, Monal, Donkervoort, Sandra, Dastgir, Jahannaz, Leach, Meganne E., Rutkowski, Anne, Waite, Melissa, Collins, James, Bönnemann, Carsten G., Meilleur, Katherine G.
I publikationen Neuromuscul Disord (2016)

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

av Tan, Dandan, Ge, Lin, Fan, Yanbin, Chang, Xingzhi, Wang, Shuang, Wei, Cuijie, Ding, Juan, Liu, Aijie, Wang, Shuo, Li, Xueying, Gao, Kai, Yang, Haipo, Que, Chengli, Huang, Zhen, Li, Chunde, Zhu, Ying, Mao, Bing, Jin, Bo, Hua, Ying, Zhang, Xiaoli, Zhang, Bingbing, Zhu, Wenhua, Zhang, Cheng, Wang, Yanjuan, Yuan, Yun, Jiang, Yuwu, Rutkowski, Anne, Bönnemann, Carsten G., Wu, Xiru, Xiong, Hui
I publikationen Orphanet J Rare Dis (2021)

Results of a Two-Year Pilot Study of Clinical Outcome Measures in Collagen VI-related Myopathy and LAMA2-related Muscular Dystrophy

av Meilleur, Katherine G., Jain, Minal S., Hynan, Linda S., Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M., Main, Marion, Rose, Kristy, Duong, Tina, Bendixen, Roxanna, Linton, Melody M., Arveson, Irene C., Nichols, Carmel, Yang, Kelly, Fischbeck, Kenneth H., Wagner, Kathryn R., North, Kathryn, Mankodi, Ami, Grunseich, Christopher, Hartnett, Elizabeth J., Smith, Michaele, Donkervoort, Sandra, Schindler, Alice, Kokkinis, Angela, Leach, Meganne, Foley, A. Reghan, Collins, James, Muntoni, Francesco, Rutkowski, Anne, Bönnemann, Carsten G
I publikationen Neuromuscul Disord (2014)

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

av Wang, Ching H., Bonnemann, Carsten G., Rutkowski, Anne, Sejersen, Thomas, Bellini, Jonathan, Battista, Vanessa, Florence, Julaine M., Schara, Ulrike, Schuler, Pamela M., Wahbi, Karim, Aloysius, Annie, Bash, Robert O., Béroud, Christophe, Bertini, Enrico, Bushby, Kate, Cohn, Ronald D., Connolly, Anne M., Deconinck, Nicolas, Desguerre, Isabelle, Eagle, Michelle, Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fujak, Albert, Goemans, Nathalie, Iannaccone, Susan T., Jouinot, Patricia, Main, Marion, Melacini, Paola, Mueller-Felber, Wolfgang, Muntoni, Francesco, Nelson, Leslie L., Rahbek, Jes, Quijano-Roy, Susana, Sewry, Caroline, Storhaug, Kari, Simonds, Anita, Tseng, Brian, Vajsar, Jiri, Vianello, Andrea, Zeller, Reinhard
I publikationen J Child Neurol (2010)