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A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).
Published in:
Muscle & Nerve, 2024, v. 69, n. 3, p. 362, doi. 10.1002/mus.28031
By:
- Varma, Anika;
- Todinca, Michael S.;
- Eichinger, Katy;
- Heininger, Susanne;
- Dilek, Nuran;
- Martens, William;
- Tawil, Rabi;
- Statland, Jeffrey;
- Kissel, John T.;
- McDermott, Michael P.;
- Heatwole, Chad
Publication type:
Article
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930435
By:
- Eichinger, Katy;
- Sowden, Janet E.;
- Burns, Joshua;
- McDermott, Michael P.;
- Krischer, Jeffrey;
- Thornton, John;
- Pareyson, Davide;
- Scherer, Steven S.;
- Shy, Michael E.;
- Reilly, Mary M.;
- Herrmann, David N.
Publication type:
Article
Remote assessment of myotonic dystrophy type 1: A feasibility study.
Published in:
Muscle & Nerve, 2022, v. 66, n. 3, p. 336, doi. 10.1002/mus.27559
By:
- Hamel, Johanna;
- Creigh, Peter D.;
- Dekdebrun, Jeanne;
- Eichinger, Katy;
- Thornton, Charles A.
Publication type:
Article
A patient‐focused survey to assess the effects of the COVID‐19 pandemic and social guidelines on people with muscular dystrophy.
Published in:
Muscle & Nerve, 2021, v. 64, n. 3, p. 321, doi. 10.1002/mus.27349
By:
- Eichinger, Katy;
- Lewis, Leann;
- Dilek, Nuran;
- Higgs, Kiley;
- Walker, Michaela;
- Palmer, David;
- Cooley, John M.;
- Johnson, Nicholas;
- Tawil, Rabi;
- Statland, Jeffrey
Publication type:
Article
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.
Published in:
2020
By:
- Veerapandiyan, Aravindhan;
- Wagner, Kathryn R.;
- Apkon, Susan;
- McDonald, Craig M.;
- Mathews, Katherine D.;
- Parsons, Julie A.;
- Wong, Brenda L.;
- Eichinger, Katy;
- Shieh, Perry B.;
- Butterfield, Russell J.;
- Rao, Vamshi K.;
- Smith, Edward C.;
- Proud, Crystal M.;
- Connolly, Anne M.;
- Ciafaloni, Emma
Publication type:
journal article
Nusinersen for older patients with spinal muscular atrophy: A real-world clinical setting experience.
Published in:
2020
By:
- Veerapandiyan, Aravindhan;
- Eichinger, Katy;
- Guntrum, Debra;
- Kwon, Jennifer;
- Baker, Lindsay;
- Collins, Erin;
- Ciafaloni, Emma
Publication type:
journal article
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
Published in:
2018
By:
- Mul, Karlien;
- Heatwole, Chad;
- Eichinger, Katy;
- Dilek, Nuran;
- Martens, William B.;
- Van Engelen, Baziel G. M.;
- Tawil, Rabi;
- Statland, Jeffrey M.
Publication type:
journal article
Facioscapulohumeral muscular dystrophy functional composite outcome measure.
Published in:
2018
By:
- Eichinger, Katy;
- Heatwole, Chad;
- Iyadurai, Stanley;
- King, Wendy;
- Baker, Lindsay;
- Heininger, Susanne;
- Bartlett, Amy;
- Dilek, Nuran;
- Martens, William B.;
- Mcdermott, Michael;
- Kissel, John T.;
- Tawil, Rabi;
- Statland, Jeffrey M.
Publication type:
journal article
Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.
Published in:
2017
By:
- Eichinger, Katy;
- Heatwole, Chad;
- Heininger, Susanne;
- Stinson, Nikia;
- Matichak Stock, Carly;
- Grosmann, Carla;
- Wagner, Kathryn R.;
- Tawil, Rabi;
- Statland, Jeffrey M.;
- FSHD Clinical Trials Research Network
Publication type:
journal article
Electrical impedance myography in facioscapulohumeral muscular dystrophy.
Published in:
2016
By:
- Statland, Jeffrey M.;
- Heatwole, Chad;
- Eichinger, Katy;
- Dilek, Nuran;
- Martens, William B.;
- Tawil, Rabi
Publication type:
journal article
Myotonic dystrophy health index: Correlations with clinical tests and patient function.
Published in:
2016
By:
- Heatwole, Chad;
- Bode, Rita;
- Johnson, Nicholas E.;
- Dekdebrun, Jeanne;
- Dilek, Nuran;
- Eichinger, Katy;
- Hilbert, James E.;
- Logigian, Eric;
- Luebbe, Elizabeth;
- Martens, William;
- Mcdermott, Michael P.;
- Pandya, Shree;
- Puwanant, Araya;
- Rothrock, Nan;
- Thornton, Charles;
- Vickrey, Barbara G.;
- Victorson, David;
- Moxley, Richard T.
Publication type:
journal article
Prospective study of muscle cramps in Charcot-Marie-Tooth disease.
Published in:
Muscle & Nerve, 2015, v. 51, n. 4, p. 485, doi. 10.1002/mus.24333
By:
- Johnson, Nicholas E.;
- Sowden, Janet;
- Dilek, Nuran;
- Eichinger, Katy;
- Burns, Joshua;
- Mcdermott, Michael P.;
- Shy, Michael E.;
- Herrmann, David N.
Publication type:
Article
Restrictive lung involvement in facioscapulohumeral muscular dystrophy.
Published in:
Muscle & Nerve, 2014, v. 50, n. 5, p. 739, doi. 10.1002/mus.24218
By:
- Scully, Michele A.;
- Eichinger, Katy J.;
- Donlin‐Smith, Colleen M.;
- Tawil, Rabi;
- Statland, Jeffery M.
Publication type:
Article
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
Published in:
Muscle & Nerve, 2012, v. 46, n. 4, p. 482, doi. 10.1002/mus.23402
By:
- Statland, Jeffrey M.;
- Bundy, Brian N.;
- Wang, Yunxia;
- Trivedi, Jaya R.;
- Raja Rayan, Dipa;
- Herbelin, Laura;
- Donlan, Merideth;
- McLin, Rhonda;
- Eichinger, Katy J.;
- Findlater, Karen;
- Dewar, Liz;
- Pandya, Shree;
- Martens, William B.;
- Venance, Shannon L.;
- Matthews, Emma;
- Amato, Anthony A.;
- Hanna, Michael G.;
- Griggs, Robert C.;
- Barohn, Richard J.
Publication type:
Article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 6, p. 645, doi. 10.1001/jamaneurol.2016.0171
By:
- Cornett, Kayla M. D.;
- Menezes, Manoj P.;
- Bray, Paula;
- Halaki, Mark;
- Shy, Rosemary R.;
- Yum, Sabrina W.;
- Estilow, Timothy;
- Moroni, Isabella;
- Foscan, Maria;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Laurá, Matilde;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Sowden, Janet;
- Eichinger, Katy J.;
- Herrmann, David N.;
- Shy, Michael E.
Publication type:
Article
A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities.
Published in:
2022
By:
- Montes, Jacqueline;
- Eichinger, Katy J.;
- Pasternak, Amy;
- Yochai, Cara;
- Krosschell, Kristin J.
Publication type:
journal article
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 517, doi. 10.3233/JND-220794
By:
- Lewis, Leann;
- Eichinger, Katy;
- Dilek, Nuran;
- Higgs, Kiley;
- Walker, Michaela;
- Palmer, David;
- Cooley, John M.;
- Johnson, Nicholas;
- Tawil, Rabi;
- Statland, Jeffrey
Publication type:
Article
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
By:
- Cornett, Kayla M. D.;
- Menezes, Manoj P.;
- Bray, Paula;
- Shy, Rosemary R.;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Estilow, Tim;
- Yum, Sabrina W.;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Laura, Matilde;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Eichinger, Katy J.;
- Herrmann, David N.;
- Shy, Michael E.;
- Burns, Joshua
Publication type:
Article
Measuring peripheral nerve involvement in Friedreich's ataxia.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1718, doi. 10.1002/acn3.50865
By:
- Creigh, Peter D.;
- Mountain, Joan;
- Sowden, Janet E.;
- Eichinger, Katy;
- Ravina, Bernard;
- Larkindale, Jane;
- Herrmann, David N.
Publication type:
Article
Splicing biomarkers of disease severity in myotonic dystrophy.
Published in:
Annals of Neurology, 2013, v. 74, n. 6, p. 862, doi. 10.1002/ana.23992
By:
- Nakamori, Masayuki;
- Sobczak, Krzysztof;
- Puwanant, Araya;
- Welle, Steve;
- Eichinger, Katy;
- Pandya, Shree;
- Dekdebrun, Jeannne;
- Heatwole, Chad R.;
- McDermott, Michael P.;
- Chen, Tian;
- Cline, Melissa;
- Tawil, Rabi;
- Osborne, Robert J.;
- Wheeler, Thurman M.;
- Swanson, Maurice S.;
- Moxley, Richard T.;
- Thornton, Charles A.
Publication type:
Article
Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.
Published in:
2021
By:
- Wang, Leo H.;
- Shaw, Dennis W. W.;
- Faino, Anna;
- Budech, Christopher B.;
- Lewis, Leann M.;
- Statland, Jeffrey;
- Eichinger, Katy;
- Tapscott, Stephen J.;
- Tawil, Rabi N.;
- Friedman, Seth D.
Publication type:
journal article
Needs management in families affected by childhood-onset dystrophinopathies.
Published in:
SAGE Open Medicine, 2019, v. 7, p. N.PAG, doi. 10.1177/2050312119834470
By:
- Conway, Kristin M;
- Eichinger, Katy;
- Trout, Christina;
- Romitti, Paul A;
- Mathews, Katherine D;
- Pandya, Shree K
Publication type:
Article
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 8, p. 1312, doi. 10.1093/hmg/ddy432
By:
- Wang, Eric T;
- Treacy, Daniel;
- Eichinger, Katy;
- Struck, Adam;
- Estabrook, Joseph;
- Olafson, Hailey;
- Wang, Thomas T;
- Bhatt, Kirti;
- Westbrook, Tony;
- Sedehizadeh, Sam;
- Ward, Amanda;
- Day, John;
- Brook, David;
- Berglund, J Andrew;
- Cooper, Thomas;
- Housman, David;
- Thornton, Charles;
- Burge, Christopher
Publication type:
Article
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 6, p. 1312, doi. 10.1093/hmg/ddr568
By:
- Tang, Zhen Zhi;
- Yarotskyy, Viktor;
- Wei, Lan;
- Sobczak, Krzysztof;
- Nakamori, Masayuki;
- Eichinger, Katy;
- Moxley, Richard T.;
- Dirksen, Robert T.;
- Thornton, Charles A.
Publication type:
Article
Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.735936
By:
- Duong, Tina;
- Krosschell, Kristin J.;
- James, Meredith K.;
- Nelson, Leslie;
- Alfano, Lindsay N.;
- Eichinger, Katy;
- Mazzone, Elena;
- Rose, Kristy;
- Lowes, Linda P.;
- Mayhew, Anna;
- Florence, Julaine;
- King, Wendy;
- Senesac, Claudia R.;
- Eagle, Michelle
Publication type:
Article
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
Published in:
2019
By:
- LoRusso, Samantha;
- Johnson, Nicholas E.;
- McDermott, Michael P.;
- Eichinger, Katy;
- Butterfield, Russell J.;
- Carraro, Elena;
- Higgs, Kiley;
- Lewis, Leann;
- Mul, Karlien;
- Sacconi, Sabrina;
- Sansone, Valeria A.;
- Shieh, Perry;
- van Engelen, Baziel;
- Wagner, Kathryn;
- Wang, Leo;
- Statland, Jeffrey M.;
- Tawil, Rabi;
- ReSolve Investigators and the FSHD CTRN18
Publication type:
journal article
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID‐19 pandemic: Challenges and solutions.
Published in:
2023
By:
- Eichinger, Katy;
- Behrens‐Spraggins, Steffen;
- Sowden, Janet E.;
- Pareyson, Davide;
- Reilly, Mary M.;
- Scherer, Steven S.;
- Shy, Michael E.;
- Herrmann, David N.
Publication type:
Letter to the Editor
Reliability of the Charcot‐Marie‐Tooth functional outcome measure.
Published in:
Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 288, doi. 10.1111/jns.12406
By:
- Bray, Paula;
- Cornett, Kayla M. D.;
- Estilow, Timothy;
- Pareyson, Davide;
- Zuccarino, Riccardo;
- Skorupinska, Mariola;
- Pipis, Menelaos;
- Sowden, Janet E.;
- Scherer, Steven;
- Reilly, Mary M.;
- Shy, Michael E.;
- Herrmann, David N.;
- Burns, Joshua;
- Eichinger, Katy J.
Publication type:
Article
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.
Published in:
PLoS Genetics, 2016, v. 12, n. 9, p. 1, doi. 10.1371/journal.pgen.1006316
By:
- Wagner, Stacey D.;
- Struck, Adam J.;
- Gupta, Riti;
- Farnsworth, Dylan R.;
- Mahady, Amy E.;
- Eichinger, Katy;
- Thornton, Charles A.;
- Wang, Eric T.;
- Berglund, J. Andrew
Publication type:
Article

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