Publications by authors named "Cheryl Longman"

42 Publications

A DM1 patient with CCG variant repeats: Reaching the diagnosis.

Authors:
Sarah A Cumming Agata Oliwa Gillian Stevens Bob Ballantyne Cameron Mann Saif Razvi Cheryl Longman Darren G Monckton Maria Elena Farrugia

Neuromuscul Disord 2020 Dec 24. Epub 2020 Dec 24.

Neurology Department, Institute of Neurological Sciences, Queen Elizabeth University Hospital, 1345, Govan Road, Glasgow G51 4TF, United Kingdom. Electronic address:

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December 2020

Making sense of missense variants in TTN-related congenital myopathies.

Authors:
Martin Rees Roksana Nikoopour Atsushi Fukuzawa Ay Lin Kho Miguel A Fernandez-Garcia Elizabeth Wraige Istvan Bodi Charu Deshpande Özkan Özdemir Hülya-Sevcan Daimagüler Mark Pfuhl Mark Holt Birgit Brandmeier Sarah Grover Joël Fluss Cheryl Longman Maria Elena Farrugia Emma Matthews Michael Hanna Francesco Muntoni Anna Sarkozy Rahul Phadke Ros Quinlivan Emily C Oates Rolf Schröder Christian Thiel Jens Reimann Nicol Voermans Corrie Erasmus Erik-Jan Kamsteeg Chaminda Konersman Carla Grosmann Shane McKee Sandya Tirupathi Steven A Moore Ekkehard Wilichowski Elke Hobbiebrunken Gabriele Dekomien Isabelle Richard Peter Van den Bergh Cristina Domínguez-González Sebahattin Cirak Ana Ferreiro Heinz Jungbluth Mathias Gautel

Acta Neuropathol 2021 Mar 15;141(3):431-453. Epub 2021 Jan 15.

Randall Centre for Cell and Molecular Biophysics, Muscle Biophysics, King's College London BHF Centre of Research Excellence, London, UK.

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March 2021

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis.

Authors:
Jordan Burgess Diba Behzad-Noori Cheryl Longman Kathryn Brennan

BMJ Case Rep 2020 Dec 22;13(12). Epub 2020 Dec 22.

Neurology, NHS Glasgow and Clyde South Glasgow University Hospitals NHS Trust, Glasgow, UK.

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December 2020

A clinical scoring system for congenital contractural arachnodactyly.

Authors:
Ilse Meerschaut Shana De Coninck Wouter Steyaert Angela Barnicoat Allan Bayat Francesco Benedicenti Siren Berland Edward M Blair Jeroen Breckpot Anna de Burca Anne Destrée Sixto García-Miñaúr Andrew J Green Bernadette C Hanna Kathelijn Keymolen Marije Koopmans Damien Lederer Melissa Lees Cheryl Longman Sally Ann Lynch Alison M Male Fiona McKenzie Isabelle Migeotte Ercan Mihci Banu Nur Florence Petit Juliette Piard Frank S Plasschaert Anita Rauch Pascale Ribaï Iratxe Salcedo Pacheco Franco Stanzial Irene Stolte-Dijkstra Irene Valenzuela Vinod Varghese Pradeep C Vasudevan Emma Wakeling Carina Wallgren-Pettersson Paul Coucke Anne De Paepe Daniël De Wolf Sofie Symoens Bert Callewaert

Genet Med 2020 01 18;22(1):124-131. Epub 2019 Jul 18.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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January 2020

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Authors:
Suzanna G M Frints Friederike Hennig Roberto Colombo Sebastien Jacquemont Paulien Terhal Holly H Zimmerman David Hunt Bryce A Mendelsohn Ulrike Kordaß Richard Webster Margje Sinnema Omar Abdul-Rahman Vanessa Suckow Alberto Fernández-Jaén Kees van Roozendaal Servi J C Stevens Merryn V E Macville Salwan Al-Nasiry Koen van Gassen Norbert Utzig Suzanne M Koudijs Lesley McGregor Saskia M Maas Diana Baralle Abhijit Dixit Peter Wieacker Marcus Lee Arthur S Lee Elizabeth C Engle Gunnar Houge Gyri A Gradek Andrew G L Douglas Cheryl Longman Shelagh Joss Danita Velasco Raoul C Hennekam Hiromi Hirata Vera M Kalscheuer

Hum Mutat 2019 12 21;40(12):2270-2285. Epub 2019 Aug 21.

Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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December 2019

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight.

Authors:
Mark J Hamilton John McLean Sarah Cumming Bob Ballantyne Josephine McGhie Ravi Jampana Cheryl Longman Jonathan J Evans Darren G Monckton Maria Elena Farrugia

Front Neurol 2018 2;9:780. Epub 2018 Oct 2.

Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, United Kingdom.

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October 2018

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Authors:
Urielle Ullmann Luigi D'Argenzio Shrey Mathur Tamieka Whyte Ros Quinlivan Cheryl Longman Maria Elena Farrugia Adnan Manzur Tracey Willis Heinz Jungbluth Matthew Pitt Sebahattin Cirak Lucy Feng William Stewart Rachael Mein Rahul Phadke Caroline Sewry Anna Sarkozy Francesco Muntoni

Neuromuscul Disord 2018 09 30;28(9):741-749. Epub 2018 Jun 30.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address:

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September 2018

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.

Authors:
Sarah A Cumming Mark J Hamilton Yvonne Robb Helen Gregory Catherine McWilliam Anneli Cooper Berit Adam Josephine McGhie Graham Hamilton Pawel Herzyk Michael R Tschannen Elizabeth Worthey Richard Petty Bob Ballantyne Jon Warner Maria Elena Farrugia Cheryl Longman Darren G Monckton

Eur J Hum Genet 2018 11 2;26(11):1635-1647. Epub 2018 Jul 2.

Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK.

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November 2018

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Authors:
Maria Sframeli Anna Sarkozy Marta Bertoli Guja Astrea Judith Hudson Mariacristina Scoto Rachael Mein Michael Yau Rahul Phadke Lucy Feng Caroline Sewry Adeline Ngoh Seow Fen Cheryl Longman Gary McCullagh Volker Straub Stephanie Robb Adnan Manzur Kate Bushby Francesco Muntoni

Neuromuscul Disord 2017 Sep 16;27(9):793-803. Epub 2017 Jun 16.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK. Electronic address:

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September 2017

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Authors:
Ewen W Sommerville Yi Shiau Ng Charlotte L Alston Cristina Dallabona Micol Gilberti Langping He Charlotte Knowles Sophie L Chin Andrew M Schaefer Gavin Falkous David Murdoch Cheryl Longman Marianne de Visser Laurence A Bindoff John M Rawles John C S Dean Richard K Petty Maria E Farrugia Tobias B Haack Holger Prokisch Robert McFarland Douglass M Turnbull Claudia Donnini Robert W Taylor Gráinne S Gorman

JAMA Neurol 2017 06;74(6):686-694

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.

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June 2017

Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.

Authors:
Mark J Hamilton Yvonne Robb Sarah Cumming Helen Gregory Alexis Duncan Monika Rahman Anne McKeown Catherine McWilliam John Dean Alison Wilcox Maria E Farrugia Anneli Cooper Josephine McGhie Berit Adam Richard Petty Cheryl Longman Iain Findlay Alan Japp Darren G Monckton Martin A Denvir

PLoS One 2017 6;12(4):e0175615. Epub 2017 Apr 6.

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April 2017

Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.

Authors:
Mark J Hamilton Yvonne Robb Sarah Cumming Helen Gregory Alexis Duncan Monika Rahman Anne McKeown Catherine McWilliam John Dean Alison Wilcox Maria E Farrugia Anneli Cooper Josephine McGhie Berit Adam Richard Petty Cheryl Longman Iain Findlay Alan Japp Darren G Monckton Martin A Denvir

PLoS One 2017 21;12(3):e0174166. Epub 2017 Mar 21.

Centre for Cardiovascular Science, Queens Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom.

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September 2017

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Authors:
Anne Guimier Christopher T Gordon François Godard Gianina Ravenscroft Myriam Oufadem Christelle Vasnier Caroline Rambaud Patrick Nitschke Christine Bole-Feysot Cécile Masson Stéphane Dauger Cheryl Longman Nigel G Laing Béatrice Kugener Damien Bonnet Patrice Bouvagnet Sylvie Di Filippo Vincent Probst Richard Redon Philippe Charron Agnès Rötig Stanislas Lyonnet Alain Dautant Loïc de Pontual Jean-Paul di Rago Agnès Delahodde Jeanne Amiel

Am J Hum Genet 2016 09 11;99(3):666-673. Epub 2016 Aug 11.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France. Electronic address:

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September 2016

A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers.

Authors:
Ayesha Ahmed Stefan Spinty Victoria Murday Cheryl Longman Aleem Khand

Int J Cardiol 2016 Jan 31;203:1084-5. Epub 2015 Oct 31.

University Hospital Aintree, Liverpool, UK; Liverpool Heart and Chest Hospital, Liverpool, UK; University of Liverpool, Liverpool, UK. Electronic address:

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January 2016

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Authors:
Mark James Hamilton Cheryl Longman Ann O'Hara Martin Kirkpatrick Robert McWilliam

Neuromuscul Disord 2015 Feb 22;25(2):169-71. Epub 2014 Oct 22.

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom.

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February 2015

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Authors:
Gerald Pfeffer Gráinne S Gorman Helen Griffin Marzena Kurzawa-Akanbi Emma L Blakely Ian Wilson Kamil Sitarz David Moore Julie L Murphy Charlotte L Alston Angela Pyle Jon Coxhead Brendan Payne George H Gorrie Cheryl Longman Marios Hadjivassiliou John McConville David Dick Ibrahim Imam David Hilton Fiona Norwood Mark R Baker Stephan R Jaiser Patrick Yu-Wai-Man Michael Farrell Allan McCarthy Timothy Lynch Robert McFarland Andrew M Schaefer Douglass M Turnbull Rita Horvath Robert W Taylor Patrick F Chinnery

Brain 2014 May 10;137(Pt 5):1323-36. Epub 2014 Apr 10.

1 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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May 2014

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Authors:
Amina Chaouch Kathryn M Brennan Judith Hudson Cheryl Longman John McConville Patrick J Morrison Maria E Farrugia Richard Petty Willie Stewart Fiona Norwood Rita Horvath Patrick F Chinnery Donald Costigan John Winer Tuomo Polvikoski Estelle Healy Anna Sarkozy Teresinha Evangelista Oksana Pogoryelova Michelle Eagle Kate Bushby Volker Straub Hanns Lochmüller

J Neurol Neurosurg Psychiatry 2014 Dec 2;85(12):1359-65. Epub 2014 Apr 2.

Institute of Genetic Medicine, MRC Centre for Neuromuscular Disease, Newcastle University, Newcastle upon Tyne, UK.

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December 2014

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Authors:
Minttu Marttila Vilma-Lotta Lehtokari Steven Marston Tuula A Nyman Christine Barnerias Alan H Beggs Enrico Bertini Ozge Ceyhan-Birsoy Pascal Cintas Marion Gerard Brigitte Gilbert-Dussardier Jacob S Hogue Cheryl Longman Bruno Eymard Moshe Frydman Peter B Kang Lars Klinge Hanna Kolski Hans Lochmüller Laurent Magy Véronique Manel Michèle Mayer Eugenio Mercuri Kathryn N North Sylviane Peudenier-Robert Helena Pihko Frank J Probst Ricardo Reisin Willie Stewart Ana Lia Taratuto Marianne de Visser Ekkehard Wilichowski John Winer Kristen Nowak Nigel G Laing Tom L Winder Nicole Monnier Nigel F Clarke Katarina Pelin Mikaela Grönholm Carina Wallgren-Pettersson

Hum Mutat 2014 Jul 1;35(7):779-90. Epub 2014 May 1.

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

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July 2014

A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.

Authors:
Christopher D Graham John Weinman Reza Sadjadi Trudie Chalder Richard Petty Mike G Hanna Chris Turner Matt Parton Paul Maddison Aleksandar Radunovic Cheryl Longman Yvonne Robb Kate Bushby David Hilton-Jones Michael R Rose

Clin Rehabil 2014 May 15;28(5):508-19. Epub 2013 Nov 15.

1Department of Psychology, Institute of Psychiatry, King's College London, London, UK.

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May 2014

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Authors:
Anna Sarkozy Debbie Hicks Judith Hudson Steve H Laval Rita Barresi David Hilton-Jones Marcus Deschauer Elizabeth Harris Laura Rufibach Esther Hwang Rumaisa Bashir Maggie C Walter Sabine Krause Peter van den Bergh Isabel Illa Isabelle Pénisson-Besnier Liesbeth De Waele Doug Turnbull Michela Guglieri Bertold Schrank Benedikt Schoser Jürgen Seeger Herbert Schreiber Dieter Gläser Michelle Eagle Geraldine Bailey Richard Walters Cheryl Longman Fiona Norwood John Winer Francesco Muntoni Michael Hanna Mark Roberts Laurence A Bindoff Charlotte Brierley Robert G Cooper David A Cottrell Nick P Davies Andrew Gibson Gráinne S Gorman Simon Hammans Andrew P Jackson Aijaz Khan Russell Lane John McConville Meriel McEntagart Ali Al-Memar John Nixon Jay Panicker Matt Parton Richard Petty Christopher J Price Wojtek Rakowicz Partha Ray Anthony H Schapira Robert Swingler Chris Turner Kathryn R Wagner Paul Maddison Pamela J Shaw Volker Straub Kate Bushby Hanns Lochmüller

Hum Mutat 2013 Aug 12;34(8):1111-8. Epub 2013 Jun 12.

Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.

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August 2013

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.

Authors:
Matthew Henderson Liesbeth De Waele Judith Hudson Michelle Eagle Caroline Sewry Julie Marsh Richard Charlton Langping He Emma L Blakely Iain Horrocks William Stewart Robert W Taylor Cheryl Longman Kate Bushby Rita Barresi

Acta Neuropathol 2013 Jun 11;125(6):917-9. Epub 2013 Apr 11.

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June 2013

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Authors:
Sebahattin Cirak Aileen Reghan Foley Ralf Herrmann Tobias Willer Shu Yau Elizabeth Stevens Silvia Torelli Lina Brodd Alisa Kamynina Petr Vondracek Helen Roper Cheryl Longman Rudolf Korinthenberg Gianni Marrosu Peter Nürnberg Daniel E Michele Vincent Plagnol Matt Hurles Steven A Moore Caroline A Sewry Kevin P Campbell Thomas Voit Francesco Muntoni

Brain 2013 Jan 3;136(Pt 1):269-81. Epub 2013 Jan 3.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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January 2013

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Authors:
Robert D S Pitceathly Sinéad M Murphy Ellen Cottenie Annapurna Chalasani Mary G Sweeney Cathy Woodward Ese E Mudanohwo Iain Hargreaves Simon Heales John Land Janice L Holton Henry Houlden Julian Blake Michael Champion Frances Flinter Stephanie A Robb Rupert Page Michael Rose Jacqueline Palace Carol Crowe Cheryl Longman Michael P Lunn Shamima Rahman Mary M Reilly Michael G Hanna

Neurology 2012 Sep 29;79(11):1145-54. Epub 2012 Aug 29.

From the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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September 2012

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Authors:
Andrea Klein Suzanne Lillis Iulia Munteanu Mariacristina Scoto Haiyan Zhou Ros Quinlivan Volker Straub Adnan Y Manzur Helen Roper Pierre-Yves Jeannet Wojtek Rakowicz David Hilton Jones Uffe Birk Jensen Elizabeth Wraige Natalie Trump Ulrike Schara Hanns Lochmuller Anna Sarkozy Helen Kingston Fiona Norwood Maxwell Damian Janbernd Kirschner Cheryl Longman Mark Roberts Michaela Auer-Grumbach Imelda Hughes Kate Bushby Caroline Sewry Stephanie Robb Stephen Abbs Heinz Jungbluth Francesco Muntoni

Hum Mutat 2012 Jun 4;33(6):981-8. Epub 2012 Apr 4.

Paediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.

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June 2012

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Authors:
Ruth McGowan Benjamin R Challoner Sarah Ross Susan Holloway Shelagh Joss Douglas Wilcox Simon T Holden John Tolmie Cheryl Longman

Clin Genet 2013 Feb 9;83(2):187-90. Epub 2012 Apr 9.

North Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.

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February 2013

Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?

Authors:
Catherine A McWilliam Mark F Devlin Shelagh K Joss David A Koppel Cheryl Longman Arup Ray Margo L Whiteford

Clin Dysmorphol 2011 Apr;20(2):89-91

Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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April 2011

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Authors:
Michaela Auer-Grumbach Andrea Olschewski Lea Papić Hannie Kremer Meriel E McEntagart Sabine Uhrig Carina Fischer Eleonore Fröhlich Zoltán Bálint Bi Tang Heimo Strohmaier Hanns Lochmüller Beate Schlotter-Weigel Jan Senderek Angelika Krebs Katherine J Dick Richard Petty Cheryl Longman Neil E Anderson George W Padberg Helenius J Schelhaas Conny M A van Ravenswaaij-Arts Thomas R Pieber Andrew H Crosby Christian Guelly

Nat Genet 2010 Feb 27;42(2):160-4. Epub 2009 Dec 27.

Institute of Human Genetics, Medical University of Graz, Austria.

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February 2010

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Authors:
Emma Clement Eugenio Mercuri Caroline Godfrey Janine Smith Stephanie Robb Maria Kinali Volker Straub Kate Bushby Adnan Manzur Beril Talim Frances Cowan Ros Quinlivan Andrea Klein Cheryl Longman Robert McWilliam Haluk Topaloglu Rachael Mein Stephen Abbs Kathryn North A James Barkovich Mary Rutherford Francesco Muntoni

Ann Neurol 2008 Nov;64(5):573-82

Dubowitz Neuromuscular Unit, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.

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November 2008

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Authors:
Julia Rankin Michaela Auer-Grumbach Warwick Bagg Kevin Colclough Thuy Duong Nguyen Jane Fenton-May Andrew Hattersley Judith Hudson Philip Jardine Dragana Josifova Cheryl Longman Robert McWilliam Katharine Owen Mark Walker Manfred Wehnert Sian Ellard

Am J Med Genet A 2008 Jun;146A(12):1530-42

Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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June 2008

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Authors:
Emma M Clement Caroline Godfrey Jenny Tan Martin Brockington Silvia Torelli Lucy Feng Susan C Brown Cecilia Jimenez-Mallebrera Caroline A Sewry Cheryl Longman Rachael Mein Steve Abbs Jiri Vajsar Harry Schachter Francesco Muntoni

Arch Neurol 2008 Jan;65(1):137-41

Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College London, Du Cane Road, London W12 ONN, England.

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January 2008