Nanna Witting

From the Copenhagen Neuromuscular Center, Department of Neurology (S.H.-Y., N.W., J.D., J.d.S.B., T.S., F.F., A.-S.E., J.V.), and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen; and Neurology Practice (T.S.), Herlev, Denmark.

View Article and Find Full Text PDF

July 2020

Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1.

Authors:

Kirsten L Knak Aisha M Sheikh Henning Andersen Nanna Witting John Vissing

Neurology 2020 06 26;94(24):e2508-e2520. Epub 2020 May 26.

From the Department of Neurology (K.L.K., A.M.S., N.W., J.V.), Rigshospitalet, Copenhagen; and Department of Neurology (H.A.), Aarhus University Hospital, Denmark.

View Article and Find Full Text PDF

June 2020

Physical activity in myotonic dystrophy type 1.

Authors:

Kirsten Lykke Knak Aisha Munawar Sheikh Nanna Witting John Vissing

J Neurol 2020 Jun 17;267(6):1679-1686. Epub 2020 Feb 17.

Department of Neurology, Rigshospitalet, Juliane Maries Vej 28, 2100, Copenhagen, Denmark.

View Article and Find Full Text PDF

June 2020

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

Hum Mutat 2020 02 3;41(2):403-411. Epub 2019 Dec 3.

Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

View Article and Find Full Text PDF

February 2020

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Acta Neuropathol 2019 09 19;138(3):477-495. Epub 2019 Jun 19.

Centre for Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, Guy's Campus, King's College London, London, SE1 1UL, UK.

View Article and Find Full Text PDF

September 2019

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

J Neuromuscul Dis 2019 ;6(2):241-258

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article and Find Full Text PDF

December 2019

Congenital myopathies are mainly associated with a mild cardiac phenotype.

Authors:

Helle Petri Karim Wahbi Nanna Witting Lars Køber Henning Bundgaard Emna Kamoun Geoffroy Vellieux Tanya Stojkovic Anthony Béhin Pascal Laforet John Vissing

J Neurol 2019 Jun 14;266(6):1367-1375. Epub 2019 Mar 14.

Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

View Article and Find Full Text PDF

June 2019

Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies - Still a possible treatment modality?

Authors:

Nanna W Dombernowsky Joakim N E Ölmestig Nanna Witting Christina Kruuse

Neuromuscul Disord 2018 11 11;28(11):914-926. Epub 2018 Sep 11.

Department of Neurology, Neurovascular Research Unit, Herlev Gentofte Hospital, University of Copenhagen, Denmark; PDE Research Group, Lundbeck Foundation Center for Neurovascular Research (LUCENS), Denmark. Electronic address:

View Article and Find Full Text PDF

November 2018

Altered somatosensory neurovascular response in patients with Becker muscular dystrophy.

Authors:

Ulrich Lindberg Christina Kruuse Nanna Witting Stine Lundgaard Jørgensen John Vissing Egill Rostrup Henrik Bo Wiberg Larsson

Brain Behav 2018 06 24;8(6):e00985. Epub 2018 Apr 24.

Functional Imaging Unit, Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet Glostrup, University of Copenhagen, Glostrup, Denmark.

View Article and Find Full Text PDF

June 2018

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Skelet Muscle 2018 07 30;8(1):23. Epub 2018 Jul 30.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

View Article and Find Full Text PDF

July 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Authors:

Emily C Oates Kristi J Jones Sandra Donkervoort Amanda Charlton Susan Brammah John E Smith James S Ware Kyle S Yau Lindsay C Swanson Nicola Whiffin Anthony J Peduto Adam Bournazos Leigh B Waddell Michelle A Farrar Hugo A Sampaio Hooi Ling Teoh Phillipa J Lamont David Mowat Robin B Fitzsimons Alastair J Corbett Monique M Ryan Gina L O'Grady Sarah A Sandaradura Roula Ghaoui Himanshu Joshi Jamie L Marshall Melinda A Nolan Simranpreet Kaur Jaya Punetha Ana Töpf Elizabeth Harris Madhura Bakshi Casie A Genetti Minttu Marttila Ulla Werlauff Nathalie Streichenberger Alan Pestronk Ingrid Mazanti Jason R Pinner Carole Vuillerot Carla Grosmann Ana Camacho Payam Mohassel Meganne E Leach A Reghan Foley Diana Bharucha-Goebel James Collins Anne M Connolly Heather R Gilbreath Susan T Iannaccone Diana Castro Beryl B Cummings Richard I Webster Leïla Lazaro John Vissing Sandra Coppens Nicolas Deconinck Ho-Ming Luk Neil H Thomas Nicola C Foulds Marjorie A Illingworth Sian Ellard Catriona A McLean Rahul Phadke Gianina Ravenscroft Nanna Witting Peter Hackman Isabelle Richard Sandra T Cooper Erik-Jan Kamsteeg Eric P Hoffman Kate Bushby Volker Straub Bjarne Udd Ana Ferreiro Kathryn N North Nigel F Clarke Monkol Lek Alan H Beggs Carsten G Bönnemann Daniel G MacArthur Henk Granzier Mark R Davis Nigel G Laing

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

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

View Article and Find Full Text PDF

June 2018

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.

Authors:

Nanna Witting Thomas Krag Ulla Werlauff Morten Duno Sofie Thuroe Oestergaard Julia Rebecka Dahlqvist John Vissing

Muscle Nerve 2018 06 5;57(6):1026-1030. Epub 2018 Feb 5.

Copenhagen Neuromuscular Center, Department of Neurology, 2081, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

View Article and Find Full Text PDF

June 2018

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Authors:

Grete Andersen Gitte Hedermann Nanna Witting Morten Duno Henning Andersen John Vissing

Brain 2017 Sep;140(9):2295-2305

Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Denmark.

View Article and Find Full Text PDF

September 2017

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Authors:

Nanna Witting Ulla Werlauff Morten Duno John Vissing

Neurol Genet 2017 Apr 21;3(2):e140. Epub 2017 Mar 21.

Copenhagen Neuromuscular Center (N.W., J.V.), Department of Neurology, and Department of Clinical Genetics (U.W.), Rigshospitalet, University of Copenhagen; and The Danish National Rehabilitation Centre for Neuromuscular Diseases (M.D.), Aarhus, Denmark.

View Article and Find Full Text PDF

April 2017