Publications by authors named "Peter Hackman"

63Publications

Panorama of the distal myopathies.

Acta Myol 2020 Dec 1;39(4):245-265. Epub 2020 Dec 1.

Folkhälsan Research Center, Helsinki, Finland.

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December 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscul Disord 2020 01 19;30(1):38-46. Epub 2019 Nov 19.

Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.

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January 2020

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscul Disord 2019 02 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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February 2019

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Neurol Genet 2017 Dec 11;3(6):e204. Epub 2017 Dec 11.

Folkhälsan Institute of Genetics (S.V., M.S., M.J., L.S., M.A., K.K., K.P., B.U., P.H.), Medicum, Faculty of Biological and Environmental Sciences (K.P.), University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University and University Hospital, Finland; Department of Neurology (B.U.), Vaasa Central Hospital, Finland; Biodonostia Health Research Institute (A.S., A.L.D.M), Neurosciences Area, CIBERNED, University of the Basque Country, San Sebastián, Spain; and Centre de Référence Maladies Neuromusculaires (GNMH) (A.-M.C.), Hôpital Marin APHP, Hendaye, France.

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December 2017

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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June 2018

The complexity of titin splicing pattern in human adult skeletal muscles.

Skelet Muscle 2018 03 29;8(1):11. Epub 2018 Mar 29.

Folkhälsan Research Center, University of Helsinki, Helsinki, Finland.

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March 2018

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Neuromuscul Disord 2017 Nov 22;27(11):1009-1017. Epub 2017 Jun 22.

Newcastle University, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle upon Tyne, UK. Electronic address:

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November 2017

SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men.

BMC Med Genet 2017 04 11;18(1):41. Epub 2017 Apr 11.

The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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April 2017