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Authors: Volker Straub
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Journal Article

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6 Open Access

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Laura M Watts and others
Brain Communications, Volume 6, Issue 5, 2024, fcae330, https://doi.org/10.1093/braincomms/fcae330
Published: 25 September 2024
Journal Article

Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Open Access

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Alexandra Monceau and others
Brain, Volume 147, Issue 12, December 2024, Pages 4213–4226, https://doi.org/10.1093/brain/awae249
Published: 24 July 2024
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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features Open Access

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Pablo Iruzubieta and others
Brain, Volume 147, Issue 8, August 2024, Pages 2867–2883, https://doi.org/10.1093/brain/awae046
Published: 15 February 2024
Journal Article

Neuromuscular disease genetics in under-represented populations: increasing data diversity Open Access

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Lindsay A Wilson and others
Brain, Volume 146, Issue 12, December 2023, Pages 5098–5109, https://doi.org/10.1093/brain/awad254
Published: 30 July 2023
Journal Article

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy Open Access

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Jorge Alonso-Pérez and others
Brain, Volume 145, Issue 2, February 2022, Pages 596–606, https://doi.org/10.1093/brain/awab301
Published: 13 September 2021
Journal Article

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy Free

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Jorge Alonso-Pérez and others
Brain, Volume 143, Issue 9, September 2020, Pages 2696–2708, https://doi.org/10.1093/brain/awaa228
Published: 01 September 2020
Journal Article

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion Free

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Nasim Vasli and others
Brain, Volume 140, Issue 1, January 2017, Pages 37–48, https://doi.org/10.1093/brain/aww257
Published: 05 November 2016
Journal Article

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy Free

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John Vissing and others
Brain, Volume 139, Issue 8, August 2016, Pages 2154–2163, https://doi.org/10.1093/brain/aww133
Published: 03 June 2016
Journal Article

Natural history of pulmonary function in collagen VI-related myopathies Get access

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A. Reghan Foley and others
Brain, Volume 136, Issue 12, December 2013, Pages 3625–3633, https://doi.org/10.1093/brain/awt284
Published: 22 November 2013
Journal Article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 Open Access

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A. Reghan Foley and others
Brain, Volume 137, Issue 1, January 2014, Pages 44–56, https://doi.org/10.1093/brain/awt315
Published: 15 November 2013
Journal Article

Titin mutation segregates with hereditary myopathy with early respiratory failure Get access

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Gerald Pfeffer and others
Brain, Volume 135, Issue 6, June 2012, Pages 1695–1713, https://doi.org/10.1093/brain/aws102
Published: 09 May 2012
Journal Article

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials Get access

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Karen Anthony and others
Brain, Volume 134, Issue 12, December 2011, Pages 3547–3559, https://doi.org/10.1093/brain/awr291
Published: 18 November 2011
Journal Article

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy Get access

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Debbie Hicks and others
Brain, Volume 134, Issue 1, January 2011, Pages 171–182, https://doi.org/10.1093/brain/awq294
Published: 22 December 2010
Journal Article

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population Get access

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Fiona L. M. Norwood and others
Brain, Volume 132, Issue 11, November 2009, Pages 3175–3186, https://doi.org/10.1093/brain/awp236
Published: 18 September 2009
Journal Article

Response to letter from Bernardi Get access

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Debbie Hicks and others
Brain, Volume 132, Issue 10, October 2009, Page e122, https://doi.org/10.1093/brain/awp022
Published: 17 March 2009
Journal Article

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP) Get access

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Paul Thornhill and others
Brain, Volume 131, Issue 6, June 2008, Pages 1551–1561, https://doi.org/10.1093/brain/awn078
Published: 13 May 2008
Journal Article

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A Get access

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Emma J. Groen and others
Brain, Volume 130, Issue 12, December 2007, Pages 3237–3249, https://doi.org/10.1093/brain/awm259
Published: 01 December 2007
Journal Article

Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Get access

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Caroline Godfrey and others
Brain, Volume 130, Issue 10, October 2007, Pages 2725–2735, https://doi.org/10.1093/brain/awm212
Published: 18 August 2007
Journal Article

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies Get access

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Haiyan Zhou and others
Brain, Volume 130, Issue 8, August 2007, Pages 2024–2036, https://doi.org/10.1093/brain/awm096
Published: 04 May 2007