C. Bonnemann

发表

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

N. Hübner, L. Medne, M. Gautel, 2014, Human molecular genetics.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

Andrew P. Vreede, J. Y. Kuwada, J. Dowling, 2009, PLoS genetics.

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

K. F. Fajardo, J. Mullikin, M. Sincan, 2013, Neuromuscular Disorders.

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Beryl B. Cummings, Stephane E. Castel, Paul J. Hoffman, 2019, Science.

Vertebral artery dissection: issues in diagnosis and management.

F. Buonanno, E. Dooling, C. Bonnemann, 1996, Pediatric neurology.

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Susan C. Brown, K. Bushby, F. Muntoni, 2006, Neuromuscular Disorders.

Genotype-phenotype correlations in recessive RYR1-related myopathies

M. Tarnopolsky, K. Mathews, J. Dowling, 2013, Orphanet Journal of Rare Diseases.

Tracking diaphragm and chest wall movement on cine-MRI

Ronald M. Summers, Jianhua Yao, Andrew E. Arai, 2018, 2018 IEEE 15th International Symposium on Biomedical Imaging (ISBI 2018).

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

R. Weksberg, F. Muntoni, J. Dowling, 2022, Acta Neuropathologica.

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

J. Allsop, M. Pane, E. Mercuri, 2005, Neuromuscular Disorders.

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

K. Boycott, C. Beaulieu, J. Parboosingh, 2009, Journal of child neurology.

The neuromuscular differential diagnosis of joint hypermobility

C. Bönnemann, N. Voermans, B. Loeys, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

E. Shoubridge, T. Hornemann, Mari J Aaltonen, 2022, The Journal of clinical investigation.

SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

E. Shoubridge, T. Hornemann, Mari J Aaltonen, 2022, bioRxiv.

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

R. Finkel, B. Wong, A. Pestronk, 2011, Human mutation.

Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

Yun Yuan, C. Bonnemann, Hai-po Yang, 2014, PloS one.

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

R. Finkel, T. Pierson, G. Tennekoon, 2008, Annals of neurology.

Subcutaneous Sumatriptan in an Adolescent With Acute Posttraumatic Headache

M. Nance, N. Abend, C. Bonnemann, 2008, Journal of child neurology.

Genetic and clinical findings in a Chinese cohort of patients with collagen VI‐related myopathies

C. Bonnemann, Hai-po Yang, Aijie Liu, 2018, Clinical genetics.

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

D. Figarella-Branger, E. Malfatti, N. Romero, 2013, Journal of neuropathology and experimental neurology.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

A. Vanderver, L. Medne, A. Gropman, 2014, American journal of medical genetics. Part A.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

H. Morizono, R. Finkel, Y. Hathout, 2017, Neuromuscular Disorders.

A long-read RNA-seq approach to identify novel transcripts of very large genes

E. Hoffman, J. Goecks, J. Jaiswal, 2020, Genome research.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

C. Bönnemann, A. Beggs, M. Gautel, 2017, Neuromuscular Disorders.

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

B. Engelen, C. Bönnemann, B. Hamel, 2009, Journal of Neurology.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

J. Emparanza, D. Figarella-Branger, C. Bönnemann, 2005, Brain : a journal of neurology.

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, E. Bertini, M. Schroth, 2012, Journal of child neurology.

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.

L. Kunkel, M. Passos-Bueno, M. Zatz, 1996, Human molecular genetics.

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

Beryl B. Cummings, Paul J. Hoffman, D. MacArthur, 2019, bioRxiv.

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2019, Human mutation.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Laura K Conlin, Livija Medne, Hakon Hakonarson, 2010, Human molecular genetics.

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.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Livija Medne, Amy Meyer, R. Finkel, 2009, Human mutation.

Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling

M. Young, V. Kram, C. Bonnemann, 2020, Scientific Reports.

Zebrafish models of collagen VI-related myopathies

J. Dowling, W. R. Telfer, E. Feldman, 2010, Human molecular genetics.

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

K. Bushby, F. Muntoni, R. Weiss, 2005, Journal of Medical Genetics.

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

Dan-hua Zhao, Yun Yuan, C. Bonnemann, 2014, World Journal of Pediatrics.

A refined diagnostic algorithm for Bethlem myopathy

K. Bushby, Hanns Lochmüller, V. Straub, 2008, Neurology.

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

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

Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.

E. Bertini, J. Bevilacqua, C. Castiglioni, 2017, Acta dermato-venereologica.

Status epilepticus secondary to hypertensive encephalopathy as the presenting manifestation of Guillain-Barré syndrome.

D. Licht, N. Abend, C. Bonnemann, 2007, Pediatric emergency care.

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

R. Weksberg, F. Muntoni, J. Dowling, 2022, Acta Neuropathologica.

R. Ghosh, P. Tanpaiboon, A. Antonellis, 2020, American journal of medical genetics. Part A.

66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands

J. Beckmann, K. Bushby, F. Muntoni, 1999, Neuromuscular Disorders.

Role of GluR1 in Activity-Dependent Motor System Development

P. Seeburg, R. Sprengel, R. Kalb, 2008, The Journal of Neuroscience.

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

A. Foley, A. Kaindl, D. Saade, 2022, Neurology.

P.345 Serum biomarker discovery for congenital muscular dystrophies

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

A new long-read RNA-seq analysis approach identifies and quantifies novel transcripts of very large genes

E. Hoffman, J. Goecks, J. Jaiswal, 2020, bioRxiv.

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3

Michael Bamshad, Gabrielle Kardon, Anne M. Moon, 2016, Disease Models & Mechanisms.

[Documentation of outpatient treatment of Paget's disease in Westphalia-Lippe. Descriptive analysis of statutory health insurance data for the year 2005].

M. Hertrich, C. Bonnemann, T. Altenhöner, 2009, Zeitschrift fur Rheumatologie.

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

L. Mesrob, A. D’Amico, E. Malfatti, 2018, Muscle & nerve.

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

Susan C. Brown, E. Mercuri, K. Bushby, 2004, Neuropediatrics.

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

S. Donkervoort, C. Bonnemann, G. Utine, 2022, The Journal of Pediatric Research.

Common Data Elements for Muscle Biopsy Reporting.

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

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

C. Bönnemann, A. Beggs, M. Gautel, 2017, Neuromuscular Disorders.