M
Mariacristina Scoto
Researcher at UCL Institute of Child Health
Publications - 50
Citations - 2485
Mariacristina Scoto is an academic researcher from UCL Institute of Child Health. The author has contributed to research in topics: Spinal muscular atrophy & SMA*. The author has an hindex of 22, co-authored 50 publications receiving 1774 citations. Previous affiliations of Mariacristina Scoto include Great Ormond Street Hospital for Children NHS Foundation Trust & National Institute for Health Research.
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Journal ArticleDOI
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations
Valeria Ricotti,William Mandy,Mariacristina Scoto,Marika Pane,Nicolas Deconinck,Nicolas Deconinck,Sonia Messina,Eugenio Mercuri,Eugenio Mercuri,David Skuse,Francesco Muntoni +10 more
TL;DR: The aim of the study was to characterize the DMD neuropsychiatric profile fully and to explore underlying genotype/phenotype associations.
Journal ArticleDOI
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Emily C. Oates,Emily C. Oates,Alexander M. Rossor,Majid Hafezparast,Michael A. Gonzalez,Fiorella Speziani,Daniel G. MacArthur,Daniel G. MacArthur,Monkol Lek,Monkol Lek,E. Cottenie,Mariacristina Scoto,A. Reghan Foley,Matthew E. Hurles,Henry Houlden,Linda Greensmith,Michaela Auer-Grumbach,Thomas R. Pieber,Tim M. Strom,Rebecca Schüle,David N. Herrmann,Janet E. Sowden,Gyula Acsadi,Manoj P. Menezes,Manoj P. Menezes,Nigel F. Clarke,Nigel F. Clarke,Stephan Züchner,Francesco Muntoni,Kathryn N. North,Kathryn N. North,Kathryn N. North,Mary M. Reilly +32 more
TL;DR: Findings provide insight into the mechanism underlying both the static and the slowly progressive clinical features and the motor neuron pathology that characterize BICD2-associated diseases, and underscore the importance of the dynein-dynactin transport pathway in the development and survival of both lower and upper motor neurons.
Journal ArticleDOI
Revised upper limb module for spinal muscular atrophy: Development of a new module.
Elena S. Mazzone,Anna Mayhew,Jacqueline Montes,Danielle Ramsey,Lavinia Fanelli,Sally Dunaway Young,Rachel Salazar,Roberto De Sanctis,Amy Pasternak,Allan M. Glanzman,Giorgia Coratti,Matthew Civitello,Nicola Forcina,Richard Gee,Tina Duong,Marika Pane,Mariacristina Scoto,Maria Carmela Pera,Sonia Messina,Gihan Tennekoon,John W. Day,Basil T. Darras,Darryl C. De Vivo,Richard S. Finkel,Francesco Muntoni,Eugenio Mercuri +25 more
TL;DR: The development of the Revised Upper Limb Module (RULM), an assessment specifically designed for upper limb function in SMA patients, is reported.
Journal ArticleDOI
Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies
Andrea Klein,S. Lillis,Iulia Munteanu,Mariacristina Scoto,Haiyan Zhou,Ros Quinlivan,Volker Straub,Adnan Y. Manzur,Helen Roper,Pierre-Yves Jeannet,Wojtek Rakowicz,David P.H. Jones,Uffe Birk Jensen,Elizabeth Wraige,Natalie Trump,Ulrike Schara,Hanns Lochmüller,Anna Sarkozy,Helen Kingston,Fiona Norwood,Maxwell S. Damian,Janbernd Kirschner,Cheryl Longman,Mark Roberts,Michaela Auer-Grumbach,Imelda Hughes,Kate Bushby,Caroline Sewry,Stephanie Robb,Stephen Abbs,Heinz Jungbluth,Heinz Jungbluth,Francesco Muntoni +32 more
TL;DR: A large number of novel RYR1 mutations are reported and indicates that recessive variants are at least as frequent as the dominant ones, and that patients with recessive inheritance had earlier onset, more weakness, and functional limitations.
Journal ArticleDOI
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
A. Reghan Foley,Manoj P. Menezes,Manoj P. Menezes,Amelie Pandraud,Michael A. Gonzalez,Ahmad Al-Odaib,Ahmad Al-Odaib,Alexander J. Abrams,Kumiko Sugano,Atsushi Yonezawa,Adnan Y. Manzur,Joshua Burns,Joshua Burns,Imelda Hughes,B. Gary McCullagh,Heinz Jungbluth,Heinz Jungbluth,Heinz Jungbluth,Ming K. Lim,Jean-Pierre Lin,André Mégarbané,J. Andoni Urtizberea,Ayaz H. Shah,Jayne Antony,Richard Webster,Alexander Broomfield,Joanne Ng,Ann Agnes Mathew,James J. O'Byrne,Eva B. Forman,Mariacristina Scoto,Manish Prasad,Katherine O'Brien,Simon E. Olpin,Marcus Oppenheim,Iain P. Hargreaves,John M. Land,Min X. Wang,Kevin Carpenter,Rita Horvath,Volker Straub,Monkol Lek,Wendy A. Gold,Wendy A. Gold,Michael O. Farrell,Sebastian Brandner,Rahul Phadke,Rahul Phadke,Kazuo Matsubara,Michael L. McGarvey,Steven S. Scherer,Peter Baxter,Mary D. King,Peter E. Clayton,Shamima Rahman,Shamima Rahman,Mary M. Reilly,Robert A. Ouvrier,Robert A. Ouvrier,John Christodoulou,John Christodoulou,Stephan Züchner,Francesco Muntoni,Henry Houlden +63 more
TL;DR: The clinical and biochemical responses of this SLC52A2-specific cohort suggest that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition, particularly when initiated soon after the onset of symptoms.