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Journal of Child Neurology|January 10, 2008
Subcutaneous sumatriptan in an adolescent with acute posttraumatic headacheNicholas S Abend, Michael L Nance, Carsten Bonnemann
Neuromuscular Disorders : NMD|November 2, 2023
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The NetherlandsLaurent Servais, Rebecca Horton, Dimah Saade, et al.
Journal of Child Neurology|April 1, 2009
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)Kym M Boycott, Carsten Bonnemann, Joachim Herz, et al.
The Journal of Molecular Diagnostics : JMD|March 20, 2012
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophyC Alexander Valencia, Devin Rhodenizer, Shruti Bhide, et al.
Plos One|January 18, 2013
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panelC Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, et al.
Neuromuscular Disorders : NMD|March 29, 2005
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathyEugenio Mercuri, Anne Lampe, Joanna Allsop, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression DataKaushik Ram Ganapathy, Martin Broly, Sarah Silverstein, et al.
World Journal of Pediatrics : WJP|May 8, 2014
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophyYan-Zhi Zhang, Dan-Hua Zhao, Hai-Po Yang, et al.
Archives of Pathology & Laboratory Medicine|July 2, 2015
Common Data Elements for Muscle Biopsy ReportingJahannaz Dastgir, Anne Rutkowski, Rachel Alvarez, et al.
Scientific Reports|August 15, 2020
Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signalingHai T Pham, Vardit Kram, Qurratul-Ain Dar, et al.
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