نتائج البحث - "Francesca Faravelli"

المساهمون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, , Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/645446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332; https://www.nature.com/articles/gim2017221Test

الإتاحة: https://doi.org/10.1038/gim.2017.221Test
http://hdl.handle.net/11585/645446Test
https://www.nature.com/articles/gim2017221Test

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7

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

المؤلفون: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki

المصدر: WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422Test(21)00462-2

مصطلحات موضوعية: Fragile X Mental Retardation Protein, DNA Repeat Expansion, Whole Genome Sequencing, Whole Genome Sequencing/methods, Humans, Neurology (clinical), Prospective Studies, Child, Fragile X Mental Retardation Protein/genetics, State Medicine, United Kingdom, Retrospective Studies

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924dTest
https://eprints.soton.ac.uk/455528Test/

8

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

المؤلفون: Francesca Faravelli, Vicente Rubio, Clara Marco-Marín, Emanuele Panza, Marco Seri, Diego Martinelli, Francesca Forzano, Carlo Dionisi-Vici, Juan Manuel Escamilla-Honrubia, Pamela Magini

المساهمون: Ministerio de Economía y Competitividad (España), Rubio, Vicente[0000-0001-8124-1196], Rubio, Vicente, Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

المصدر: Annals of Clinical and Translational Neurology
Digital.CSIC. Repositorio Institucional del CSIC
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Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1533-1540 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, ALDH18A1, P5CS, HSP, Hereditary spastic paraplegia, Neurosciences. Biological psychiatry. Neuropsychiatry, medicine.disease_cause, Bioinformatics, Brief Communication, Bone and Bones, Cataract, 03 medical and health sciences, 0302 clinical medicine, Spastic, medicine, Sf9 Cells, Cognitive status, Animals, Humans, RC346-429, Growth Disorders, Mutation, business.industry, Spastic Paraplegia, Hereditary, General Neuroscience, Aldehyde Dehydrogenase, medicine.disease, Cell system, Pedigree, 030104 developmental biology, Neurology. Diseases of the nervous system, Neurology (clinical), Paraplegia, business, Brief Communications, 030217 neurology & neurosurgery, RC321-571

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d9fd5cc3a2ffb3c970506f8b6c64c5cTest
http://europepmc.org/articles/PMC6689680Test

9

Absent abdominal musculature in a girl

المؤلفون: Detlef Bockenhauer, Imran Mushtaq, Francesca Faravelli

المصدر: Kidney international. 101(4)

مصطلحات موضوعية: Nephrology, Humans, Female, Child, Muscle, Skeletal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1591a0e62fe45a46f8398ad4fd7f80fTest
https://pubmed.ncbi.nlm.nih.gov/35314052Test

10

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

المساهمون: Ricci E., Fetta A., Garavelli L., Caraffi S., Ivanovski I., Bonanni P., Accorsi P., Giordano L., Pantaleoni C., Romeo A., Arena A., Bonetti S., Boni A., Chiarello D., Di Pisa V., Epifanio R., Faravelli F., Finardi E., Fiumara A., Grioni D., Mammi I., Negrin S., Osanni E., Raviglione F., Rivieri F., Rizzi R., Savasta S., Tarani L., Zanotta N., Dormi A., Vignoli A., Canevini M., Cordelli D.M.

المصدر: Epilepsybehavior : EB. 124

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df53199a3cb649a3baec1d940ce2943Test
https://pubmed.ncbi.nlm.nih.gov/34619538Test

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