Publications by authors named "Anna Sarkozy"

89Publications

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Ann Clin Transl Neurol 2020 Oct 10. Epub 2020 Oct 10.

The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1002/acn3.51218DOI Listing
October 2020

LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.

Ann Clin Transl Neurol 2020 Oct 10;7(10):1870-1882. Epub 2020 Sep 10.

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

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http://dx.doi.org/10.1002/acn3.51172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545609PMC
October 2020

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.

Front Mol Neurosci 2020 5;13:123. Epub 2020 Aug 5.

Dubowitz Neuromuscular Centre, Institute of Child Health, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.3389/fnmol.2020.00123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419697PMC
August 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.

Chest 2020 Oct 7;158(4):1606-1616. Epub 2020 May 7.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, England; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, England. Electronic address:

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http://dx.doi.org/10.1016/j.chest.2020.04.043DOI Listing
October 2020

Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report.

Eur Heart J Case Rep 2019 Sep 13;3(3):ytz117. Epub 2019 Jul 13.

Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.

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http://dx.doi.org/10.1093/ehjcr/ytz117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764571PMC
September 2019

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Neuromuscul Disord 2019 06 27;29(6):448-455. Epub 2019 Mar 27.

Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183137
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http://dx.doi.org/10.1016/j.nmd.2019.03.011DOI Listing
June 2019

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

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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http://dx.doi.org/10.1016/j.nmd.2018.05.012DOI Listing
September 2018

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Nat Rev Neurol 2018 03 2;14(3):151-167. Epub 2018 Feb 2.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1038/nrneurol.2017.191DOI Listing
March 2018

Dystrophinopathies and Limb-Girdle Muscular Dystrophies.

Neuropediatrics 2017 Aug 20;48(4):262-272. Epub 2017 Apr 20.

UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1601860DOI Listing
August 2017

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

Arch Dis Child 2016 10 31;101(10):957-61. Epub 2016 May 31.

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

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http://dx.doi.org/10.1136/archdischild-2015-308825DOI Listing
October 2016

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

J Neurol Neurosurg Psychiatry 2016 08 4;87(8):802-9. Epub 2016 May 4.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047737PMC
August 2016

Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy.

Muscle Nerve 2016 06 27;54(1):79-85. Epub 2016 Apr 27.

The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/mus.24991DOI Listing
June 2016

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Neuromuscul Disord 2015 Nov 27;25(11):835-42. Epub 2015 Jul 27.

Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1016/j.nmd.2015.07.014DOI Listing
November 2015

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

Hum Mol Genet 2014 May 13;23(9):2353-63. Epub 2013 Dec 13.

MRC Centre for Neuromusc ular Disease at Newcastle, Institute of Genetic Medicine, Newcastle, UK.

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http://dx.doi.org/10.1093/hmg/ddt637DOI Listing
May 2014

Skeletal muscle involvement in cardiomyopathies.

J Cardiovasc Med (Hagerstown) 2013 Dec;14(12):837-61

aMonaldi Hospital, Second University of Naples, Naples, Italy bInstitute of Cardiovascular Science, University College London and The Heart Hospital, University College London Hospitals Trust, London cInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.2459/JCM.0b013e3283641c69DOI Listing
December 2013

Presymptomatic late-onset Pompe disease identified by the dried blood spot test.

Neuromuscul Disord 2013 Jan 10;23(1):89-92. Epub 2012 Oct 10.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2012.09.004DOI Listing
January 2013

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Eur J Hum Genet 2011 Oct 1;19(10):1038-44. Epub 2011 Jun 1.

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

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http://dx.doi.org/10.1038/ejhg.2011.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190262PMC
October 2011

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Neuromuscul Disord 2011 Jan 3;21(1):37-40. Epub 2010 Dec 3.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2010.11.003DOI Listing
January 2011

Neuromuscular disorders and 2010: recent advances.

J Neurol 2010 Dec 18;257(12):2117-21. Epub 2010 Sep 18.

Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00415-010-5745-7DOI Listing
December 2010

New aspects on patients affected by dysferlin deficient muscular dystrophy.

J Neurol Neurosurg Psychiatry 2010 Sep 14;81(9):946-53. Epub 2009 Jun 14.

University of Newcastle, Institute of Human Genetics, The Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.

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http://jnnp.bmj.com/content/81/9/946.full.pdf
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp.2009.178038
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http://dx.doi.org/10.1136/jnnp.2009.178038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975994PMC
September 2010

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.

Neuromuscul Disord 2008 Dec 22;18(12):997-1001. Epub 2008 Oct 22.

Institute of Human Genetics, University of Newcastle, TREAT-NMD Office, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.nmd.2008.07.006DOI Listing
December 2008

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

Am J Med Genet A 2008 Jul;146A(14):1815-9

Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32407DOI Listing
July 2008

Leopard syndrome.

Orphanet J Rare Dis 2008 May 27;3:13. Epub 2008 May 27.

IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Viale Regina Elena 261, 00198, Rome, Italy.

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http://dx.doi.org/10.1186/1750-1172-3-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467408PMC
May 2008

Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.

Am J Med Genet A 2008 Feb;146A(3):327-9

Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32149DOI Listing
February 2008

Costello syndrome: clinical diagnosis in the first year of life.

Eur J Pediatr 2008 Jun 29;167(6):621-8. Epub 2007 Aug 29.

Medical Genetics, Pediatric Cardiology, Bronchopneumology, Bambino Gesù Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-007-0558-0DOI Listing
June 2008

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

J Cardiovasc Med (Hagerstown) 2007 Jan;8(1):7-11

Pediatric Cardiology, Department of Pediatrics, La Sapienza University, Rome, Italy.

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http://dx.doi.org/10.2459/01.JCM.0000247428.51828.51DOI Listing
January 2007

KBG syndrome.

Orphanet J Rare Dis 2006 Dec 12;1:50. Epub 2006 Dec 12.

CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-5
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http://dx.doi.org/10.1186/1750-1172-1-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1764006PMC
December 2006

Familial recurrence of congenital heart disease: an overview and review of the literature.

Eur J Pediatr 2007 Feb 8;166(2):111-6. Epub 2006 Nov 8.

Pediatric Cardiology, Department of Pediatrics, University La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-006-0295-9DOI Listing
February 2007

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Eur J Pediatr 2006 Nov 30;165(11):803-5. Epub 2006 May 30.

Medical Genetics, Bambino Gesù Hospital, Rome, Italy,

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http://link.springer.com/10.1007/s00431-006-0163-7
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http://dx.doi.org/10.1007/s00431-006-0163-7DOI Listing
November 2006

LEOPARD syndrome: clinical diagnosis in the first year of life.

Am J Med Genet A 2006 Apr;140(7):740-6

Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31156DOI Listing
April 2006

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.

Am J Med Genet A 2005 Feb;133A(1):68-70

CSS Hospital, IRCCS, San Giovanni Rotondo, Italy; CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30534DOI Listing
February 2005

KBG syndrome in a cohort of Italian patients.

Am J Med Genet A 2004 Dec;131(2):144-9

CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30292DOI Listing
December 2004

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Am J Med Genet A 2004 May;127A(1):96-8

CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Viale Regina Margherita 261, I-00198 Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20658DOI Listing
May 2004

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

J Vasc Surg 2004 Apr;39(4):897-900

Division of Vascular Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.jvs.2003.11.030DOI Listing
April 2004

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

Am J Med Genet 2002 Sep;111(4):412-4

Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.10577DOI Listing
September 2002

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Am J Hum Genet 2002 Aug 7;71(2):389-94. Epub 2002 Jun 7.

Division of Medical Genetics, Bambino Gesù Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

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http://dx.doi.org/10.1086/341528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379170PMC
August 2002