Works by Fratta, Pietro

Results: 54

A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.562445

By:

Jarvis, Seth;
Birsa, Nicol;
Secrier, Maria;
Fratta, Pietro;
Plagnol, Vincent

Publication type:

Article

ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02538-8

By:

Garone, Maria Giovanna;
Birsa, Nicol;
Rosito, Maria;
Salaris, Federico;
Mochi, Michela;
de Turris, Valeria;
Nair, Remya R.;
Cunningham, Thomas J.;
Fisher, Elizabeth M. C.;
Morlando, Mariangela;
Fratta, Pietro;
Rosa, Alessandro

Publication type:

Article

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Published in:

Frontiers in Neuroscience, 2020, p. 1, doi. 10.3389/fnins.2020.00042

By:

Abramzon, Yevgeniya A.;
Fratta, Pietro;
Traynor, Bryan J.;
Chia, Ruth

Publication type:

Article

Evaluation of methodologies for microRNA biomarker detection by next generation sequencing.

Published in:

RNA Biology, 2018, v. 15, n. 8, p. 1133, doi. 10.1080/15476286.2018.1514236

By:

Coenen-Stass, Anna M.L.;
Magen, Iddo;
Brooks, Tony;
Ben-Dov, Iddo Z.;
Greensmith, Linda;
Hornstein, Eran;
Fratta, Pietro

Publication type:

Article

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.

Published in:

FEBS Letters, 2015, v. 589, n. 14, p. 1653, doi. 10.1016/j.febslet.2015.05.003

By:

Simone, Roberto;
Fratta, Pietro;
Neidle, Stephen;
Parkinson, Gary N.;
Isaacs, Adrian M.

Publication type:

Article

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 8, p. 2358, doi. 10.1523/JNEUROSCI.3819-05.2006

By:

Wrabetz, Lawrence;
D'Antonio, Maurizio;
Pennuto, Maria;
Dati, Gabriele;
Tinelli, Elisa;
Fratta, Pietro;
Previtali, Stefano;
Imperiale, Daniele;
Zielasek, Jurgen;
Toyka, Klaus;
Avila, Robin L.;
Kirschner, Daniel A.;
Messing, Albee;
Feltri, M. Laura;
Quattrini, Angelo

Publication type:

Article

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Published in:

EMBO Journal, 2018, v. 37, n. 11, p. 1, doi. 10.15252/embj.201798684

By:

Fratta, Pietro;
Sivakumar, Prasanth;
Humphrey, Jack;
Lo, Kitty;
Ricketts, Thomas;
Oliveira, Hugo;
Brito‐Armas, Jose M.;
Kalmar, Bernadett;
Ule, Agnieszka;
Yu, Yichao;
Birsa, Nicol;
Bodo, Cristian;
Collins, Toby;
Conicella, Alexander E.;
Mejia Maza, Alan;
Marrero‐Gagliardi, Alessandro;
Stewart, Michelle;
Mianne, Joffrey;
Corrochano, Silvia;
Emmett, Warren

Publication type:

Article

SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology.

Published in:

Neuroscientist, 2015, v. 21, n. 5, p. 519, doi. 10.1177/1073858414561795

By:

Bunton-Stasyshyn, Rosie K. A.;
Saccon, Rachele A.;
Fratta, Pietro;
Fisher, Elizabeth M. C.

Publication type:

Article

microRNA‐based predictor for diagnosis of frontotemporal dementia.

Published in:

Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12916

By:

Magen, Iddo;
Yacovzada, Nancy‐Sarah;
Warren, Jason D.;
Heller, Carolin;
Swift, Imogen;
Bobeva, Yoana;
Malaspina, Andrea;
Rohrer, Jonathan D.;
Fratta, Pietro;
Hornstein, Eran

Publication type:

Article

HnRNP K mislocalisation in neurons of the dentate nucleus is a novel neuropathological feature of neurodegenerative disease and ageing.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 4, p. 1, doi. 10.1111/nan.12793

By:

Sidhu, Rahul;
Gatt, Ariana;
Fratta, Pietro;
Lashley, Tammaryn;
Bampton, Alexander

Publication type:

Article

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Published in:

Nature Neuroscience, 2014, v. 17, n. 5, p. 664, doi. 10.1038/nn.3688

By:

Johnson, Janel O;
Pioro, Erik P;
Boehringer, Ashley;
Chia, Ruth;
Feit, Howard;
Renton, Alan E;
Pliner, Hannah A;
Abramzon, Yevgeniya;
Marangi, Giuseppe;
Winborn, Brett J;
Gibbs, J Raphael;
Nalls, Michael A;
Morgan, Sarah;
Shoai, Maryam;
Hardy, John;
Pittman, Alan;
Orrell, Richard W;
Malaspina, Andrea;
Sidle, Katie C;
Fratta, Pietro

Publication type:

Article

RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS.

Published in:

Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02705-1

By:

Spence, Holly;
Waldron, Fergal M.;
Saleeb, Rebecca S.;
Brown, Anna-Leigh;
Rifai, Olivia M.;
Gilodi, Martina;
Read, Fiona;
Roberts, Kristine;
Milne, Gillian;
Wilkinson, Debbie;
O’Shaughnessy, Judi;
Pastore, Annalisa;
Fratta, Pietro;
Shneider, Neil;
Tartaglia, Gian Gaetano;
Zacco, Elsa;
Horrocks, Mathew H.;
Gregory, Jenna M.

Publication type:

Article

AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.

Published in:

Acta Neuropathologica, 2022, v. 143, n. 6, p. 713, doi. 10.1007/s00401-022-02428-1

By:

Forouhan, Mitra;
Lim, Wooi Fang;
Zanetti-Domingues, Laura C.;
Tynan, Christopher J.;
Roberts, Thomas C.;
Malik, Bilal;
Manzano, Raquel;
Speciale, Alfina A.;
Ellerington, Ruth;
Garcia-Guerra, Antonio;
Fratta, Pietro;
Sorarú, Gianni;
Greensmith, Linda;
Pennuto, Maria;
Wood, Matthew J. A.;
Rinaldi, Carlo

Publication type:

Article

Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions.

Published in:

Acta Neuropathologica, 2022, v. 143, n. 3, p. 383, doi. 10.1007/s00401-021-02399-9

By:

Hasan, Rahat;
Humphrey, Jack;
Bettencourt, Conceição;
Newcombe, Jia;
Lashley, Tammaryn;
Fratta, Pietro;
Raj, Towfique

Publication type:

Article

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.

Published in:

Acta Neuropathologica, 2021, v. 142, n. 4, p. 609, doi. 10.1007/s00401-021-02340-0

By:

Bampton, Alexander;
Gatt, Ariana;
Humphrey, Jack;
Cappelli, Sara;
Bhattacharya, Dipanjan;
Foti, Sandrine;
Brown, Anna-Leigh;
Asi, Yasmine;
Low, Yi Hua;
Foiani, Marco;
Raj, Towfique;
Buratti, Emanuele;
Fratta, Pietro;
Lashley, Tammaryn

Publication type:

Article

The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis.

Published in:

Acta Neuropathologica, 2020, v. 140, n. 5, p. 599, doi. 10.1007/s00401-020-02203-0

By:

Bampton, Alexander;
Gittings, Lauren M.;
Fratta, Pietro;
Lashley, Tammaryn;
Gatt, Ariana

Publication type:

Article

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.

Published in:

Acta Neuropathologica, 2019, v. 137, n. 3, p. 487, doi. 10.1007/s00401-018-1946-4

By:

Moens, Thomas G.;
Niccoli, Teresa;
Wilson, Katherine M.;
Atilano, Magda L.;
Birsa, Nicol;
Gittings, Lauren M.;
Holbling, Benedikt V.;
Dyson, Miranda C.;
Thoeng, Annora;
Neeves, Jacob;
Glaria, Idoia;
Yu, Lu;
Bussmann, Julia;
Storkebaum, Erik;
Pardo, Mercedes;
Choudhary, Jyoti S.;
Fratta, Pietro;
Partridge, Linda;
Isaacs, Adrian M.

Publication type:

Article

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

Published in:

Acta Neuropathologica, 2015, v. 129, n. 5, p. 715, doi. 10.1007/s00401-015-1401-8

By:

Xi, Zhengrui;
Zhang, Ming;
Bruni, Amalia;
Maletta, Raffaele;
Colao, Rosanna;
Fratta, Pietro;
Polke, James;
Sweeney, Mary;
Mudanohwo, Ese;
Nacmias, Benedetta;
Sorbi, Sandro;
Tartaglia, Maria;
Rainero, Innocenzo;
Rubino, Elisa;
Pinessi, Lorenzo;
Galimberti, Daniela;
Surace, Ezequiel;
McGoldrick, Philip;
McKeever, Paul;
Moreno, Danielle

Publication type:

Article

<i>C9orf72</i> frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 6, p. 845, doi. 10.1007/s00401-013-1200-z

By:

Mizielinska, Sarah;
Lashley, Tammaryn;
Norona, Frances E.;
Clayton, Emma L.;
Ridler, Charlotte E.;
Fratta, Pietro;
Isaacs, Adrian M.

Publication type:

Article

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 3, p. 401, doi. 10.1007/s00401-013-1147-0

By:

Fratta, Pietro;
Poulter, Mark;
Lashley, Tammaryn;
Rohrer, Jonathan;
Polke, James;
Beck, Jon;
Ryan, Natalie;
Hensman, Davina;
Mizielinska, Sarah;
Waite, Adrian;
Lai, Mang-Ching;
Gendron, Tania;
Petrucelli, Leonard;
Fisher, Elizabeth;
Revesz, Tamas;
Warren, Jason;
Collinge, John;
Isaacs, Adrian;
Mead, Simon

Publication type:

Article

impact of age on genetic testing decisions in amyotrophic lateral sclerosis.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4440, doi. 10.1093/brain/awac279

By:

Mehta, Puja R;
Iacoangeli, Alfredo;
Opie-Martin, Sarah;
Vugt, Joke J F A van;
Khleifat, Ahmad Al;
Bredin, Andrea;
Ossher, Lynn;
Andersen, Peter M;
Hardiman, Orla;
Mehta, Arpan R;
Fratta, Pietro;
Talbot, Kevin;
Consortium, Project MinE ALS Sequencing;
Al-Chalabi, Ammar

Publication type:

Article

TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.

Published in:

2018

By:

Sivakumar, Prasanth;
Giorgio, Francesca De;
Ule, Agnieszka M;
Neeves, Jacob;
Nair, Remya R;
Bentham, Matthew;
Birsa, Nicol;
Humphrey, Jack;
Plagnol, Vincent;
Acevedo-Arozena, Abraham;
De Giorgio, Francesca;
Cunningham, Thomas J;
Fisher, Elizabeth M C;
Fratta, Pietro

Publication type:

Letter

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.

Published in:

2018

By:

Fratta, Pietro;
Isaacs, Adrian M.

Publication type:

journal article

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

Published in:

2017

By:

Devoy, Anny;
Kalmar, Bernadett;
Stewart, Michelle;
Park, Heesoon;
Burke, Beverley;
Noy, Suzanna J.;
Redhead, Yushi;
Humphrey, Jack;
Lo, Kitty;
Jaeger, Julian;
Mejia Maza, Alan;
Sivakumar, Prasanth;
Bertolin, Cinzia;
Soraru, Gianni;
Plagno, Vincent;
Greensmith, Linda;
Arozena, Abraham Acevedo;
Isaacs, Adrian M.;
Davies, Benjamin;
Fratta, Pietro

Publication type:

journal article

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Published in:

2017

By:

Morgan, Sarah;
Shatunov, Aleksey;
Sproviero, William;
Jones, Ashley R.;
Shoai, Maryam;
Hughes, Deborah;
Al Khleifat, Ahmad;
Malaspina, Andrea;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
Sidle, Katie;
Orrell, Richard W.;
Fratta, Pietro;
Hardy, John;
Pittman, Alan;
Al-Chalabi, Ammar

Publication type:

journal article

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Published in:

2016

By:

Abdelkarim, Samir;
Morgan, Sarah;
Plagno, Vincent;
Lu, Ching-Hua;
Adamson, Gary;
Howard, Robin;
Malaspina, Andrea;
Orrell, Richard;
Sharma, Nikhil;
Sidle, Katie;
Clarke, Jan;
Fox, Nick C.;
Rossor, Martin N.;
Warren, Jason D.;
Clark, Camilla N.;
Rohrer, Jonathan D.;
Fisher, Elizabeth M. C.;
Mead, Simon;
Pittman, Alan;
Fratta, Pietro

Publication type:

Letter

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3171, doi. 10.1093/brain/awu292

By:

Corrochano, Silvia;
Männikkö, Roope;
Joyce, Peter I.;
McGoldrick, Philip;
Wettstein, Jessica;
Lassi, Glenda;
Raja Rayan, Dipa L.;
Blanco, Gonzalo;
Quinn, Colin;
Liavas, Andrianos;
Lionikas, Arimantas;
Amior, Neta;
Dick, James;
Healy, Estelle G.;
Stewart, Michelle;
Carter, Sarah;
Hutchinson, Marie;
Bentley, Liz;
Fratta, Pietro;
Cortese, Andrea

Publication type:

Article

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2342, doi. 10.1093/brain/awt097

By:

Saccon, Rachele A.;
Bunton-Stasyshyn, Rosie K. A.;
Fisher, Elizabeth M.C.;
Fratta, Pietro

Publication type:

Article

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1763, doi. 10.1093/brain/awq111

By:

Nishimura, Agnes L.;
Župunski, Vera;
Troakes, Claire;
Kathe, Claudia;
Fratta, Pietro;
Howell, Michael;
Gallo, Jean-Marc;
Hortobágyi, Tibor;
Shaw, Christopher E.;
Rogelj, Boris

Publication type:

Article

Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.

Published in:

Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 379, doi. 10.1007/s12031-015-0682-7

By:

Weydt, Patrick;
Sagnelli, Anna;
Rosenbohm, Angela;
Fratta, Pietro;
Pradat, Pierre-François;
Ludolph, Albert;
Pareyson, Davide

Publication type:

Article

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Published in:

Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 394, doi. 10.1007/s12031-015-0704-5

By:

Pareyson, Davide;
Fratta, Pietro;
Pradat, Pierre-François;
Sorarù, Gianni;
Finsterer, Josef;
Vissing, John;
Jokela, Manu;
Udd, Bjarne;
Ludolph, Albert;
Sagnelli, Anna;
Weydt, Patrick

Publication type:

Article

Humoral response to neurofilaments and dipeptide repeats in ALS progression.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1831, doi. 10.1002/acn3.51428

By:

Puentes, Fabiola;
Lombardi, Vittoria;
Lu, Ching‐Hua;
Yildiz, Ozlem;
Fratta, Pietro;
Isaacs, Adrian;
Bobeva, Yoana;
Wuu, Joanne;
Benatar, Michael;
Malaspina, Andrea

Publication type:

Article

NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91094-6

By:

Mejia Maza, Alan;
Jarvis, Seth;
Lee, Weaverly Colleen;
Cunningham, Thomas J.;
Schiavo, Giampietro;
Secrier, Maria;
Fratta, Pietro;
Sleigh, James N.;
Fisher, Elizabeth M. C.;
Sudre, Carole H.

Publication type:

Article

A Nonsense Mutation in Mouse <i>Tardbp</i> Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085962

By:

Ricketts, Thomas;
McGoldrick, Philip;
Fratta, Pietro;
de Oliveira, Hugo M.;
Kent, Rosie;
Phatak, Vinaya;
Brandner, Sebastian;
Blanco, Gonzalo;
Greensmith, Linda;
Acevedo-Arozena, Abraham;
Fisher, Elizabeth M. C.

Publication type:

Article

ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics Open Access.

Published in:

Genomics, Proteomics & Bioinformatics, 2024, v. 22, n. 6, p. 1, doi. 10.1093/gpbjnl/qzae083

By:

Li, Ziyi;
Weller, Cory A;
Shah, Syed;
Johnson, Nicholas L;
Hao, Ying;
Jarreau, Paige B;
Roberts, Jessica;
Guha, Deyaan;
Bereda, Colleen;
Klaisner, Sydney;
Machado, Pedro;
Zanovello, Matteo;
Prudencio, Mercedes;
Oskarsson, Björn;
Staff, Nathan P;
Dickson, Dennis W;
Fratta, Pietro;
Petrucelli, Leonard;
Narayan, Priyanka;
Cookson, Mark R

Publication type:

Article

Opinion: more mouse models and more translation needed for ALS.

Published in:

Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00619-2

By:

Fisher, Elizabeth M.C.;
Greensmith, Linda;
Malaspina, Andrea;
Fratta, Pietro;
Hanna, Michael G.;
Schiavo, Giampietro;
Isaacs, Adrian M.;
Orrell, Richard W.;
Cunningham, Thomas J.;
Arozena, Abraham Acevedo

Publication type:

Article

The era of cryptic exons: implications for ALS-FTD.

Published in:

Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00608-5

By:

Mehta, Puja R.;
Brown, Anna-Leigh;
Ward, Michael E.;
Fratta, Pietro

Publication type:

Article

The era of cryptic exons: implications for ALS-FTD.

Published in:

Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00608-5

By:

Mehta, Puja R.;
Brown, Anna-Leigh;
Ward, Michael E.;
Fratta, Pietro

Publication type:

Article

NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.

Published in:

Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac242

By:

Cappelli, Sara;
Spalloni, Alida;
Feiguin, Fabian;
Visani, Giulia;
Šušnjar, Urša;
Brown, Anna-Leigh;
De Bardi, Marco;
Borsellino, Giovanna;
Secrier, Maria;
Phatnani, Hemali;
Romano, Maurizio;
Fratta, Pietro;
Longone, Patrizia;
Buratti, Emanuele

Publication type:

Article

Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.

Published in:

Brain Communications, 2022, v. 4, n. 1, p. 1, doi. 10.1093/braincomms/fcac029

By:

Thompson, Alexander G.;
Gray, Elizabeth;
Verber, Nick;
Bobeva, Yoana;
Lombardi, Vittoria;
Shepheard, Stephanie R.;
Yildiz, Ozlem;
Feneberg, Emily;
Farrimond, Lucy;
Dharmadasa, Thanuja;
Gray, Pamela;
Edmond, Evan C.;
Scaber, Jakub;
Gagliardi, Delia;
Kirby, Janine;
Jenkins, Thomas M.;
Fratta, Pietro;
McDermott, Christopher J.;
Manohar, Sanjay G.;
Talbot, Kevin

Publication type:

Article

Developing biomarkers of TDP‐43‐related splicing dysfunction in frontotemporal dementia.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.055170

By:

Seddighi, Sahba;
Hill, Sarah;
Brown, Anna‐Leigh;
Qi, Andy;
Hawrot, James;
Coon, Steven;
Petrucelli, Leonard;
Fratta, Pietro;
Ward, Michael

Publication type:

Article

The role of the RNA binding protein HnRNP K in the pathogenesis of frontotemporal lobar degeneration.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.052826

By:

Gatt, Ariana;
Bampton, Alexander;
Humphrey, Jack;
Cappelli, Sara;
Buratti, Emanuele;
Fratta, Pietro;
Lashley, Tammaryn

Publication type:

Article

Uses for humanised mouse models in precision medicine for neurodegenerative disease.

Published in:

Mammalian Genome, 2019, v. 30, n. 7/8, p. 173, doi. 10.1007/s00335-019-09807-2

By:

Nair, Remya R.;
Corrochano, Silvia;
Gasco, Samanta;
Tibbit, Charlotte;
Thompson, David;
Maduro, Cheryl;
Ali, Zeinab;
Fratta, Pietro;
Arozena, Abraham Acevedo;
Cunningham, Thomas J.;
Fisher, Elizabeth M. C.

Publication type:

Article

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments.

Published in:

Mammalian Genome, 2011, v. 22, n. 7/8, p. 420, doi. 10.1007/s00335-011-9339-1

By:

Joyce, Peter I.;
Fratta, Pietro;
Fisher, Elizabeth M. C.;
Acevedo-Arozena, Abraham

Publication type:

Article

Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2282, doi. 10.1093/hmg/ddz037

By:

Belin, Sophie;
Ornaghi, Francesca;
Shackleford, Ghjuvan'Ghjacumu;
Wang, Jie;
Scapin, Cristina;
Lopez-Anido, Camila;
Silvestri, Nicholas;
Robertson, Neil;
Williamson, Courtney;
Ishii, Akihiro;
Taveggia, Carla;
Svaren, John;
Bansal, Rashmi;
Schwab, Markus H;
Nave, Klaus;
Fratta, Pietro;
D'Antonio, Maurizio;
Poitelon, Yannick;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1752, doi. 10.1093/hmg/ddz021

By:

Belin, Sophie;
Ornaghi, Francesca;
Shackleford, Ghjuvan'Ghjacumu;
Wang, Jie;
Scapin, Cristina;
Lopez-Anido, Camila;
Silvestri, Nicholas;
Robertson, Neil;
Williamson, Courtney;
Ishii, Akihiro;
Taveggia, Carla;
Svaren, John;
Bansal, Rashmi;
Schwab, Markus H;
Nave, Klaus;
Fratta, Pietro;
D'Antonio, Maurizio;
Poitelon, Yannick;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1260, doi. 10.1093/hmg/ddy420

By:

Belin, Sophie;
Ornaghi, Francesca;
Shackleford, Ghjuvan'Ghjacumu;
Wang, Jie;
Scapin, Cristina;
Lopez-Anido, Camila;
Silvestri, Nicholas;
Robertson, Neil;
Williamson, Courtney;
Ishii, Akihiro;
Taveggia, Carla;
Svaren, John;
Bansal, Rashmi;
Schwab, Markus H;
Nave, Klaus;
Fratta, Pietro;
D'Antonio, Maurizio;
Poitelon, Yannick;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 124, doi. 10.1093/hmg/ddy336

By:

Fratta, Pietro;
Ornaghi, Francesca;
Dati, Gabriele;
Zambroni, Desirée;
Saveri, Paola;
Belin, Sophie;
D'Adamo, Patrizia;
Shy, Michael;
Quattrini, Angelo;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 2, p. 291, doi. 10.1093/hmg/ddv471

By:

Joyce, Peter I.;
Fratta, Pietro;
Landman, Allison S.;
Mcgoldrick, Philip;
Wackerhage, Henning;
Groves, Michael;
Busam, Bharani Shiva;
Galino, Jorge;
Corrochano, Silvia;
Beskina, Olga A.;
Esapa, Christopher;
Ryder, Edward;
Carter, Sarah;
Stewart, Michelle;
Codner, Gemma;
Hilton, Helen;
Teboul, Lydia;
Tucker, Jennifer;
Lionikas, Arimantas;
Estabel, Jeanne

Publication type:

Article

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 1883, doi. 10.1093/hmg/ddu605

By:

Joyce, Peter I.;
Mcgoldrick, Philip;
Saccon, Rachele A.;
Weber, William;
Fratta, Pietro;
West, Steven J.;
Ning Zhu;
Carter, Sarah;
Phatak, Vinaya;
Stewart, Michelle;
Simon, Michelle;
Kumar, Saumya;
Heise, Ines;
Bros-Face, Virginie;
Dick, James;
Corrochano, Silvia;
Stanford, Macdonnell J.;
Tu Vinh Luong;
Nolan, Patrick M.;
Meyer, Timothy

Publication type:

Article