Publications by authors named "Anne Rutkowski"

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Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Anne Rutkowski

Orphanet J Rare Dis· July 2021

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Randomized trial of lung hyperinflation therapy in children with congenital muscular dystrophy.
Hemant Sawnani, Oscar H Mayer, Avani C Modi, John E Pascoe, Keith McConnell, Anne M Rutkowski

Pediatr Pulmonol· September 2020

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Hypoglycemia in patients with congenital muscle disease.
Leslie H Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Anne Rutkowski

BMC Pediatr· February 2020

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Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Minal S Jain, Katherine Meilleur, Eunhee Kim, Gina Norato, Melissa Waite, Anne Rutkowski

Neurology· November 2019

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Congenital muscular dystrophies in China.
Lin Ge, Cheng Zhang, Zhaoxia Wang, Sophelia H S Chan, Wenhua Zhu, Anne Rutkowski

Clin Genet· September 2019

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Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy.
Raffaella Willmann, Heather Gordish-Dressman, Sarina Meinen, Markus A Rüegg, Qing Yu, Anne Rutkowski

J Neuromuscul Dis· July 2019

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Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Carmel Nichols, Minal S Jain, Katherine G Meilleur, Tianxia Wu, James Collins, Anne Rutkowski

Muscle Nerve· January 2018

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A natural history study of X-linked myotubular myopathy.
Kimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, Michael Glueck, Rachel Alverez, Anne Rutkowski

Neurology· September 2017

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Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
Felice Heller, Ivana Dabaj, Jean K Mah, Jean Bergounioux, Aben Essid, Anne Rutkowski

Cardiol Young· August 2017

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Adherence and barriers to hyperinsufflation in children with congenital muscular dystrophy.
John E Pascoe, Hemant Sawnani, Oscar H Mayer, Keith McConnell, Joseph M McDonough, Anne M Rutkowski

Pediatr Pulmonol· July 2017

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Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.
Katherine G Meilleur, Melody M Linton, Joseph Fontana, Anne Rutkowski, Jeffrey Elliott

Pediatr Pulmonol· April 2017

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

ERJ Open Res· April 2017

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Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Roxanna M Bendixen, Jocelyn Butrum, Mina S Jain, Rebecca Parks, Bonnie Hodsdon, Anne Rutkowski

Neuromuscul Disord· March 2017

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Common Data Elements for Muscle Biopsy Reporting.
Jahannaz Dastgir, Anne Rutkowski, Rachel Alvarez, Stacy A Cossette, Ke Yan

Arch Pathol Lab Med· January 2016

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Author response.
Peter B Kang, Leslie Morrison, Susan T Iannaccone, Robert J Graham, Carsten G Bönnemann, Anne Rutkowski

Neurology· October 2015

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Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Peter B Kang, Leslie Morrison, Susan T Iannaccone, Robert J Graham, Carsten G Bönnemann, Anne Rutkowski

Neurology· March 2015

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Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
Katherine G Meilleur, Minal S Jain, Linda S Hynan, Ching-Yi Shieh, Eunice Kim, Anne Rutkowski

Neuromuscul Disord· January 2015

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English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.
Carole Vuillerot, Katherine G Meilleur, Minal Jain, Melissa Waite, Tianxia Wu, Anne Rutkowski

Arch Phys Med Rehabil· November 2014

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Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.
Lívia M A Pasqualin, Umbertina C Reed, Thais V M M Costa, Elisângela Quedas, Marco A V Albuquerque, Anne Rutkowski

Pediatr Neurol· April 2014

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Diagnostic approach to the congenital muscular dystrophies.
Carsten G Bönnemann, Ching H Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Anne Rutkowski

Neuromuscul Disord· April 2014

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Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy.
Qing Yu, Arpana Sali, Jack Van der Meulen, Brittany K Creeden, Heather Gordish-Dressman, Anne Rutkowski

PLoS One· January 2014

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Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
C Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Anne Rutkowski

PLoS One· July 2013

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Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA.
Anne Rutkowski, Carsten Bönnemann, Susan Brown, Sólveig Thorsteinsdóttir, Janice Dominov

Neuromuscul Disord· February 2013

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Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
C Alexander Valencia, Devin Rhodenizer, Shruti Bhide, Ephrem Chin, Martin Robert Littlejohn, Anne Rutkowski

J Mol Diagn· September 2012

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