A. Rutkowski

发表

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

Yun Yuan, C. Bönnemann, Chunde Li, 2021, Orphanet Journal of Rare Diseases.

Death notification in the emergency department.

A. Rutkowski, 2002, Annals of emergency medicine.

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

M. Resende, E. Zanoteli, U. Reed, 2014, Pediatric neurology.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

C. Ottenheijm, C. Bönnemann, N. Laing, 2015, Annals of neurology.

Diagnostic approach to the congenital muscular dystrophies

Ching H. Wang, E. Bertini, F. Muntoni, 2014, Neuromuscular Disorders.

Hypoglycemia in patients with congenital muscle disease

C. Bönnemann, S. Donkervoort, A. Foley, 2020, BMC Pediatrics.

Randomized trial of lung hyperinflation therapy in children with congenital muscular dystrophy

R. Szczesniak, J. McDonough, R. Amin, 2020, Pediatric pulmonology.

173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

E. Mercuri, F. Muntoni, C. Bönnemann, 2011, Neuromuscular Disorders.

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care

C. Bönnemann, K. Wahbi, S. Quijano-roy, 2016, Cardiology in the Young.

Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy

R. Szczesniak, C. Bönnemann, S. Donkervoort, 2017, Pediatric pulmonology.

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Y. Hérault, K. Mathews, J. Dowling, 2019, Neuromuscular Disorders.

Congenital Muscular Dystrophy Overview

E. Hoffman, E. Pegoraro, S. Quijano-roy, 2012 .

Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy2J Mouse Model of Congenital Muscular Dystrophy

K. Uaesoontrachoon, C. Spurney, K. Nagaraju, 2013, PloS one.

Ovarian hyperstimulation syndrome: imperatives for the emergency physician.

I. Dubinsky, A. Rutkowski, 1999, The Journal of emergency medicine.

Electrical impedance myography in individuals with collagen 6 and laminin α‐2 congenital muscular dystrophy: a cross‐sectional and 2‐year analysis

C. Bönnemann, T. Lehky, D. Lott, 2017, Muscle & nerve.

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

C. Alexander Valencia, Arunkanth Ankala, Madhuri Hegde, 2013, PloS one.

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

M. Hegde, Shruti Bhide, L. Keong, 2012, The Journal of molecular diagnostics : JMD.

A natural history study of X-linked myotubular myopathy

J. Dowling, A. Beggs, C. Nguyen, 2017, Neurology.

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

Ching H. Wang, L. Morrison, R. Griggs, 2015, Neurology.

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

B. Tseng, Ching H. Wang, E. Bertini, 2010, Journal of child neurology.

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

K. Fischbeck, M. Main, F. Muntoni, 2015, Neuromuscular Disorders.

Congenital muscular dystrophies in China

Zhaoxia Wang, Yun Yuan, C. Bönnemann, 2019, Clinical genetics.

203rd ENMC international workshop: Respiratory pathophysiology in congenital muscle disorders: Implications for pro-active care and clinical research 13–15 December, 2013, Naarden, The Netherlands

B. Fauroux, A. Koumbourlis, A. Rutkowski, 2015, Neuromuscular Disorders.

LAMA2-Related Muscular Dystrophy

S. Quijano-roy, S. Sparks, A. Rutkowski, 2012 .

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

M. Main, C. Bönnemann, L. Hynan, 2019, Neurology.

P.345 Serum biomarker discovery for congenital muscular dystrophies

Y. Hathout, S. Donkervoort, A. Foley, 2016, Neuromuscular Disorders.

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

M. Girgenrath, C. Bönnemann, M. Ruegg, 2013, Neuromuscular Disorders.

Adherence and barriers to hyperinsufflation in children with congenital muscular dystrophy

J. McDonough, R. Amin, A. Modi, 2017, Pediatric pulmonology.

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

M. Girgenrath, C. Lutz, M. Rüegg, 2017, Journal of neuromuscular diseases.

Common Data Elements for Muscle Biopsy Reporting.

H. Goebel, Ke Yan, Y. Hayashi, 2016, Archives of pathology & laboratory medicine.

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

Susan C. Brown, M. Girgenrath, C. Bönnemann, 2013, Neuromuscular Disorders.

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

C. Bönnemann, A. Foley, D. Lesser, 2017, ERJ Open Research.