Tracking diaphragm movement by using ultrasound to assess its strength

Por Connolly, Anne M., Mittendorfer, Bettina
Publicado no J Physiol (2016)

CARDIAC PATHOLOGY EXCEEDS SKELETAL MUSCLE PATHOLOGY IN TWO CASES OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Por Margeta, Marta, Connolly, Anne M., Winder, Thomas L., Pestronk, Alan, Moore, Steven A.
Publicado em 2009

Quantitative Ultrasound Using Backscatter Analysis in Duchenne and Becker Muscular Dystrophy

Por Zaidman, Craig M., Connolly, Anne M., Malkus, Elizabeth C., Florence, Julaine, Pestronk, Alan
Publicado em 2010

Skeletal Muscle Abnormalities and Genetic Factors Related to Vertical Talus

Por Merrill, Laura J., Gurnett, Christina A., Connolly, Anne M., Pestronk, Alan, Dobbs, Matthew B.
Publicado em 2010

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Por Zhang, Feng, Khajavi, Mehrdad, Connolly, Anne M, Towne, Charles F, Batish, Sat Dev, Lupski, James R
Publicado no Nat Genet (2009)

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E

Por Wang, David S., Wu, Xingyao, Bai, Yunhong, Zaidman, Craig, Grider, Tiffany, Kamholz, John, Lupski, James R., Connolly, Anne M., Shy, Michael E.
Publicado no Ann Clin Transl Neurol (2017)

Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity

Por Schweitzer, George G., Collier, Sara L., Chen, Zhouji, Eaton, James M., Connolly, Anne M., Bucelli, Robert C., Pestronk, Alan, Harris, Thurl E., Finck, Brian N.
Publicado no JIMD Rep (2015)

CINRG Pilot trial of Coenzyme Q10 in steroid treated Duchenne Muscular Dystrophy

Por Spurney, Christopher F., Rocha, Carolina Tesi, Henricson, Erik, Florence, Julaine, Mayhew, Jill, Gorni, Ksenija, Pasquali, Livia, Pestronk, Alan, Martin, Gerard R., Hu, Fengming, Nie, Lei, Connolly, Anne M., Escolar, Diana M.
Publicado em 2011

CLINICAL FOLLOW-UP FOR DUCHENNE MUSCULAR DYSTROPHY NEWBORN SCREENING: A PROPOSAL

Por KWON, JENNIFER M., ABDEL-HAMID, HODA Z., AL-ZAIDY, SAMIAH A., MENDELL, JERRY R., KENNEDY, ANNIE, KINNETT, KATHI, CWIK, VALERIE A., STREET, NATALIE, BOLEN, JULIE, DAY, JOHN W., CONNOLLY, ANNE M.
Publicado no Muscle Nerve (2016)

Feasibility and Reproducibility of Echocardiographic Measures in Children with Muscular Dystrophies

Por Spurney, Christopher F., McCaffrey, Francis M., Cnaan, Avital, Morgenroth, Lauren P., Ghelani, Sunil J., Gordish-Dressman, Heather, Arrieta, Adrienne, Connolly, Anne M., Lotze, Timothy, McDonald, Craig, Leshner, Robert, Clemens, Paula R.
Publicado no J Am Soc Echocardiogr (2015)

A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy

Por Allen, Hugh D., Flanigan, Kevin M, Thrush, Philip T., Dvorchik, Igor, Yin, Han, Canter, Charles, Connolly, Anne M., Parrish, Mark, McDonald, Craig M., Braunlin, Elizabeth, Colan, Steven D., Day, John, Darras, Basil, Mendell, Jerry R.
Publicado em 2013

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Por Gurnett, Christina A., Desruisseau, David M., McCall, Kevin, Choi, Ryan, Meyer, Zachary I., Talerico, Michael, Miller, Sara E., Ju, Jeong-Sun, Pestronk, Alan, Connolly, Anne M., Druley, Todd E., Weihl, Conrad C., Dobbs, Mathew B.
Publicado em 2010

One Year Outcome of Boys with Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development

Por Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Eagle, Michelle, Flanigan, Kevin M., McDonald, Craig M., Karachunski, Peter I., Darras, Basil T., Bushby, Kate, Malkus, Elizabeth C., Golumbek, Paul T., Zaidman, Craig M., Miller, J Philip, Mendell, Jerry R.
Publicado em 2014

Rapamycin nanoparticles target defective autophagy in muscular dystrophy to enhance both strength and cardiac function

Por Bibee, Kristin P., Cheng, Ya-Jian, Ching, James K., Marsh, Jon N., Li, Allison J., Keeling, Richard M., Connolly, Anne M., Golumbek, Paul T., Myerson, Jacob W., Hu, Grace, Chen, Junjie, Shannon, William D., Lanza, Gregory M., Weihl, Conrad C., Wickline, Samuel A.
Publicado em 2014

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Por Flanigan, Kevin M., Dunn, Diane M., von Niederhausern, Andrew, Soltanzadeh, Payam, Howard, Michael T., Sampson, Jacinda B., Swoboda, Kathryn J., Bromberg, Mark B., Mendell, Jerry R., Taylor, Laura, Anderson, Christine B., Pestronk, Alan, Florence, Julaine, Connolly, Anne M., Mathews, Katherine D., Wong, Brenda, Finkel, Richard S., Bonnemann, Carsten G., Day, John W., McDonald, Craig, Weiss, Robert B.
Publicado em 2011

Outcome Reliability in Non Ambulatory Boys/Men with Duchenne Muscular Dystrophy

Por Connolly, Anne M., Malkus, Elizabeth C., Mendell, Jerry R., Flanigan, Kevin M., Miller, J Philip, Schierbecker, Jeanine R., Siener, Catherine A., Golumbek, Paul T., Zaidman, Craig M., McDonald, Craig M., Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Kelecic, Jason M., Lowes, Linda P, Alfano, Lindsay N., Darras, Basil T., Kang, Peter B., Quigley, Janet, Pasternak, Amy E., Florence, Julaine M.
Publicado no Muscle Nerve (2015)

Clinical and Genetic Characterization of Manifesting Carriers of DMD Mutations

Por Soltanzadeh, Payam, Friez, Michael J., Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L., Swoboda, Kathryn J., Sampson, Jacinda B., Pestronk, Alan, Connolly, Anne M., Florence, Julaine M., Finkel, Richard S., Bönnemann, Carsten G., Medne, Livija, Mendell, Jerry R., Mathews, Katherine D., Wong, Brenda L., Sussman, Michael D., Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M., Gappmaier, Eduard, Taylor, Laura E., Howard, Michael T., Weiss, Robert B., Flanigan, Kevin M.
Publicado em 2010

NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY

Por Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.
Publicado em 2014

Consensus Statement on Standard of Care for Congenital Myopathies

Por Wang, Ching H., Dowling, James J., North, Kathryn, Schroth, Mary K., Sejersen, Thomas, Shapiro, Frederic, Bellini, Jonathan, Weiss, Hali, Guillet, Marc, Amburgey, Kimberly, Apkon, Susan, Bertini, Enrico, Bonnemann, Carsten, Clarke, Nigel, Connolly, Anne M., Estournet-Mathiaud, Brigitte, Fitzgerald, Dominic, Florence, Julaine M., Gee, Richard, Gurgel-Giannetti, Juliana, Glanzman, Allan M., Hofmeister, Brittany, Jungbluth, Heinz, Koumbourlis, Anastassios C., Laing, Nigel G., Main, Marion, Morrison, Leslie A., Munns, Craig, Rose, Kristy, Schuler, Pamela M., Sewry, Caroline, Storhaug, Kari, Vainzof, Mariz, Yuan, Nanci
Publicado no J Child Neurol (2012)

Motor and Cognitive Assessment of Infants and Young Boys with Duchenne Muscular Dystrophy; Results from the Muscular Dystrophy Association DMD Clinical Research Network

Por Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Malkus, Elizabeth C., Schierbecker, Jeanine R., Siener, Catherine A., Wulf, Charlie O., Anand, Pallavi, Golumbek, Paul T., Zaidman, Craig M, Miller, J Philip, Lowes, Linda P, Alfano, Lindsay N., Viollet-Callendret, Laurence, Flanigan, Kevin M., Mendell, Jerry R., McDonald, Craig M., Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Dalton, Joline C., Farber, Janey M., Buser, Karen K., Darras, Basil T., Kang, Peter B., Riley, Susan O., Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, Eagle, Michelle
Publicado em 2013