المؤلفون: Mishra, Biswamohan, Saini, Monica, Doherty, Carolynne M, Pitceathly, Robert D S, Rajan, Roopa, Siddiqi, Omar K, Ramdharry, Gita, Asranna, Ajay, Tomaselli, Pedro Jose, Kermode, Allan G, Bajwa, Jawad A, Garg, Divyani, Vishnu, Venugopalan Y

المصدر: Journal of Medical Internet Research, Vol 23, Iss 5, p e25229 (2021)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.jmir.org/2021/5/e25229; https://doaj.org/toc/1438-8871

URL الوصول: https://doaj.org/article/85eb904c399d4aa88071583a25efd555

المؤلفون: Tomaselli, Pedro José

Thesis Advisors: Marques Júnior, Wilson

مصطلحات موضوعية: Hanseníase, Hanseníase forma neural pura, Hypertrophic neuropathy, Leprosy, Mononeuropatia múltipla, Multiple mononeuropathy, Neural primária, Neuropatia hipertrófica, Primary neural, Pure neural

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/17/17140/tde-13072014-130102/

المؤلفون: Senem, Iara, Foss, Maria Paula, Lavigne-Moreira, Carolina, dos Santos, Antonio Carlos, Nunes, Renan Flavio de Franca, Franca Jr, Marcondes Cavalcante, Tomaselli, Pedro Jose, Axelsson, Jan, 1966, Wixner, Jonas, Marques Jr, Wilson

المصدر: Neurological Sciences.

مصطلحات موضوعية: ATTRv amyloidosis, Brain, Central nervous system, Cognition, Transthyretin

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-232525
https://doi.org/10.1007/s10072-024-07846-5

المؤلفون: Tomaselli, Pedro José

Thesis Advisors: Júnior, Wilson Marques

مصطلحات موضوعية: CMT, Hereditary peripheral neuropathies, Neuropatias periféricas hereditárias, Next generation sequencing, Sequenciamento de nova geração, Sequenciamento de todo exoma, Whole exome sequencing

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/17/17140/tde-18022019-165036/

المؤلفون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Inés, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thomas, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, McConville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, James, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’di, Qais, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, James, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, null, null

المساهمون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa

مصطلحات موضوعية: canva, rfc1, Southern blotting

Relation: info:eu-repo/semantics/altIdentifier/pmid/38193360; numberofpages:31; journal:BRAIN; https://hdl.handle.net/11573/1702715

الاتاحة: https://hdl.handle.net/11573/1702715
https://doi.org/10.1093/brain/awad436

المؤلفون: Giardina, Emiliano, Camaño, Pilar, Burton‐Jones, Sarah, Ravenscroft, Gina, Henning, Franclo, Magdinier, Frederique, van der Stoep, Nienke, van der Vliet, Patrick J., Bernard, Rafaëlle, Tomaselli, Pedro J., Davis, Mark R., Nishino, Ichizo, Oflazer, Piraye, Race, Valerie, Vishnu, Venugopalan Y., Williams, Victoria, Sobreira, Cláudia F. R., van der Maarel, Silvere M., Moore, Steve A., Voermans, Nicol C., Lemmers, Richard J. L. F.

المساهمون: National Institute of Neurological Disorders and Stroke

المصدر: Clinical Genetics ; volume 106, issue 1, page 13-26 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14533
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14533

المؤلفون: Tomaselli, Pedro José, Blake, Julian, Polke, James M., do Nascimento, Osvaldo José Moreira, Reilly, Mary M., Marques Júnior, Wilson, Laurá, Matilde

المصدر: European Journal of Neurology ; volume 31, issue 5 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.16199
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.16199

المؤلفون: Gonçalves, Trajano Aguiar Pires, Tomaselli, Pedro José

المصدر: Arquivos de Neuro-Psiquiatria ; volume 82, issue 08, page 001-002 ; ISSN 0004-282X 1678-4227

الاتاحة: http://dx.doi.org/10.1055/s-0044-1787763
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0044-1787763.pdf

المؤلفون: Laugwitz, Lucia, Buchert, Rebecca, Olguín, Patricio, Estiar, Mehrdad A, Atanasova, Mihaela, Jr, Wilson Marques, Enssle, Jörg, Marsden, Brian, Avilés, Javiera, González-Gutiérrez, Andrés, Candia, Noemi, Fabiano, Marietta, Morlot, Susanne, Peralta, Susana, Groh, Alisa, Schillinger, Carmen, Kuehn, Carolin, Sofan, Linda, Sturm, Marc, Bender, Benjamin, Tomaselli, Pedro J, Diebold, Uta, Mueller, Amelie J, Spranger, Stephanie, Fuchs, Maren, Freua, Fernando, Melo, Uirá Souto, Mattas, Lauren, Ashtiani, Setareh, Suchowersky, Oksana, Groeschel, Samuel, Rouleau, Guy A, Yosovich, Keren, Michelson, Marina, Leibovitz, Zvi, Bilal, Muhammad, Uctepe, Eyyup, Yesilyurt, Ahmet, Ozdogan, Orhan, Celik, Tamer, Krägeloh-Mann, Ingeborg, Riess, Olaf, Rosewich, Hendrik, Umair, Muhammad, Lev, Dorit, Zuchner, Stephan, Schweizer, Ulrich, Lynch, David S, Gan-Or, Ziv, Haack, Tobias B

المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:112 ; Issue:1

مصطلحات موضوعية: EEFSEC deficiency, cerebellar atrophy, cerebellar hypoplasia, epilepsy, progressive spasticity, selenopathy, selenoproteins

Relation: https://doi.org/10.1016/j.ajhg.2024.12.001; https://pubmed.ncbi.nlm.nih.gov/39753114

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.12.001
https://pubmed.ncbi.nlm.nih.gov/39753114

المؤلفون: Fontana, Pedro Nogueira, da Silva, Vinícius Gomes, Corazzini, Roseli, Athayde, Natália Merten, Ferreira da Silva, Ana Marina Dutra, Brockhausen, Igor, Correia, Carolina da Cunha, Sobreira, Cláudia Ferreira da Rosa, Tomaselli, Pedro, Petean, Flávio, de Oliveira, Rodrigo, Feitoza, Pablo Vinícius, Moraes Soane, Michel, Saraiva, Natália, Hidalgo, Rafaela, Fideles, Cláudia, Feder, David, Carvalho, Alzira Alves de Siqueira

المصدر: Frontiers in Neurology; 2025, p1-8, 8p

مصطلحات موضوعية: INCLUSION body myositis, IDIOPATHIC diseases, DIAGNOSIS methods, DIFFERENTIAL diagnosis, MUSCLE diseases

المؤلفون: Maximiano-Alves, Gustavo, do Amaral Moreto Caravelas, Renata, Gonçalves, Trajano Aguiar Pires, Corniani, Kelvin Ferrari, Nather, Júlio Cesar, Geraldi-Tomaselli¹, Camila Vasconcelos, Frezatti, Rodrigo Siqueira Soares, Fernandes, Regina Maria França, dos Santos, Antônio Carlos, Marques, Wilson, Tomaselli, Pedro José

المصدر: Neurogenetics; 2025, Vol. 26 Issue 1, p1-6, 6p

المؤلفون: Bearden, David R, Wa Somwe, Somwe, Nandeesh, Bevinahalli N, Narayanappa, Gayathri, van der Maarel, Silvère M, Govindaraj, Periyasamy, Tallapaka, Karthik B, Nagappa, Madhu, Ceylan, Gülay Güleç, Semerci Gündüz, C Nur, Çavdarlı, Büşranur, Ceylan, Ahmet Cevdet, van der Vliet, Patrick J, Mahungu, Amokelani C, Steyn, Elizabeth C, Trainor, Christina I, Töpf, Ana, Mishra, Rinkle, Reyaz, Alisha, Lemmers, Richard J L F, Srivastava, Kosha, Nashi, Saraswati, Vengalil, Seena, Nonyane, Malebo, Lubbe, Elsa, Human, Ronel, Jonvik, Hallgeir, Vorster, Armand, Bisschoff, Michelle, Schoonen, Maryke, Dalal, Ashwin, Bhatia, Rohit, Marques, Wilson, Tomaselli, Pedro J, Sobreira, Claudia Ferreira da Rosa, van der Westhuizen, Francois H, Smuts, Izelle, Taylor, Robert W, McFarland, Robert, Heckmann, Jeannine M, Patel, Krutik, Wilmshurst, Jo M, Henning, Franclo, Bugiardini, Enrico, Sarkozy, Anna, Topaloğlu, Haluk, Srivastava, M V Padma, Frezatti, Rodrigo S S, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G, Polat, Ipek, Oktay, YAVUZ, Hiz, AYŞE SEMRA, Yiş, ULUÇ, Ramdharry, Gita M, Kvalsund, Michelle P, Dominik, Natalia, Kapapa, Musambo M, Köken, Özlem Yayıcı, Naidu, Kireshnee, Raga, Sharika, Schon, Katherine R, Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Gao, Fei, Fassad, Mahmoud R, Nel, Melissa, Morsy, Heba, Efthymiou, Stephanie

Relation: 75d283da-3da5-4981-9dc4-c9975e87960c; https://avesis.deu.edu.tr/publication/details/75d283da-3da5-4981-9dc4-c9975e87960c/oai

الاتاحة: https://doi.org/10.1093/brain/awad254
https://avesis.deu.edu.tr/publication/details/75d283da-3da5-4981-9dc4-c9975e87960c/oai

المؤلفون: Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T

المصدر: Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Hornemann, T; et al (2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain: a Journal of Neurology, 146(12):4880-4890.

مصطلحات موضوعية: Institute of Clinical Chemistry, 540 Chemistry, 610 Medicine & health, Neurology (clinical)

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdf; info:pmid/37769650; urn:issn:0006-8950

الاتاحة: https://www.zora.uzh.ch/id/eprint/253788/
https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdf
https://doi.org/10.1093/brain/awad328

المؤلفون: Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo SS, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard JLF, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, MV Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert DS, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

المصدر: Brain , Article awad254. (2023) (In press).

مصطلحات موضوعية: Genomic medicine, inherited neuromuscular disease, capacity building, low-to-middle income country, equality and diversity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf; https://discovery.ucl.ac.uk/id/eprint/10181002/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf
https://discovery.ucl.ac.uk/id/eprint/10181002/

المؤلفون: Novis, Luiz Eduardo, Frezatti, Rodrigo S, Pellerin, David, Tomaselli, Pedro J, Alavi, Shahryar, Della Coleta, Marcus Vinícius, Spitz, Mariana, Dicaire, Marie-Josée, Iruzubieta, Pablo, Pedroso, José Luiz, Barsottini, Orlando, Cortese, Andrea, Danzi, Matt C, França, Marcondes C, Brais, Bernard, Zuchner, Stephan, Houlden, Henry, Raskin, Salmo, Marques, Wilson, Teive, Helio A

المصدر: Neurology Genetics , 9 (5) , Article e200094. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10176274/1/Houlden_Frequency%20of%20GAA-FGF14%20Ataxia%20in%20a%20Large%20Cohort%20of%20Brazilian%20Patients%20With%20Unsolved%20Adult-Onset%20Cerebellar%20Ataxia_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10176274/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10176274/1/Houlden_Frequency%20of%20GAA-FGF14%20Ataxia%20in%20a%20Large%20Cohort%20of%20Brazilian%20Patients%20With%20Unsolved%20Adult-Onset%20Cerebellar%20Ataxia_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10176274/

المؤلفون: Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, MacPherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Genomics England Research Consortium, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

المصدر: Brain , Article awad240. (2023) (In press).

مصطلحات موضوعية: RFC1, CANVAS, ataxia, long-read sequencing, neuropathy, repeat expansions

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173615/1/Reilly_Normal%20and%20pathogenic%20variation%20of%20RFC1%20repeat%20expansions_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10173615/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173615/1/Reilly_Normal%20and%20pathogenic%20variation%20of%20RFC1%20repeat%20expansions_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10173615/

المؤلفون: Santos-Lobato, Bruno Lopes, Tomaselli, Pedro José, Santos-Lobato, Edienny Augusta Viana, Cassenote, Alex Jones Flores, Cabeça, Hideraldo Luis Souza

المصدر: Arquivos de Neuro-Psiquiatria ; volume 81, issue 02, page 134-145 ; ISSN 0004-282X 1678-4227

الاتاحة: http://dx.doi.org/10.1055/s-0043-1761490
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1761490.pdf

المؤلفون: Frezatti, Rodrigo Siqueira Soares, Tomaselli, Pedro José, Record, Christopher J, Wilson, Lindsay A, Alves, Gustavo Maximiano, Dominik, Natalia, Efthymiou, Stephanie, Patel, Krutik, Vandrovcova, Jana, Männikkö, Roope, Pitceathly, Robert D S, Sobreira, Claudia Ferreira da Rosa, McFarland, Robert, Taylor, Robert W, Houlden, Henry, Hanna, Michael G, Reilly, Mary M, Marques, Wilson

المصدر: Brain Communications; 2024, Vol. 6 Issue 6, p1-12, 12p

المؤلفون: Machado, Daiana Suelen, Viana, Celiana Figueiredo, Pedroso, José Luiz, Barsottini, Orlando Graziani Povoas, Tomaselli, Pedro José, Marques Jr, Wilson, Rezende, Thiago J. R., Martinez, Alberto R. M., França Jr, Marcondes Cavalcante

المصدر: Cerebellum; Oct2024, Vol. 23 Issue 5, p1916-1922, 7p

مصطلحات موضوعية: FRIEDREICH'S ataxia, DELAYED diagnosis, PRESSURE groups, ATAXIA, PHYSICIANS

مصطلحات جغرافية: BRAZIL

المؤلفون: Daccach, Vanessa¹, Tomaselli, Pedro José¹, Algemiro, Juliana Secchin¹, Toscano, Patricia¹, dos Santos, André Cleriston José¹, Frade, Marco Andrey Cipriano², Marques, Wilson^1,3 wmjunior@fmrp.usp.br

المصدر: Journal of the Peripheral Nervous System. Sep2024, Vol. 29 Issue 3, p356-362. 7p.

مصطلحات موضوعية: *PERIPHERAL neuropathy, *DESCRIPTIVE statistics, *HANSEN'S disease, *DEMYELINATION, *NEURAL conduction, *SENSITIVITY & specificity (Statistics), *ULNAR nerve