Zobrazeno 1 - 10
of 807
pro vyhledávání: '"Carina Wallgren-Pettersson"'
Autor:
Johanna Lehtonen, Anna-Maija Sulonen, Henrikki Almusa, Vilma-Lotta Lehtokari, Mridul Johari, Aino Palva, Anna H. Hakonen, Kirmo Wartiovaara, Anna-Elina Lehesjoki, Bjarne Udd, Carina Wallgren-Pettersson, Katarina Pelin, Marco Savarese, Janna Saarela
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Rare or novel missense variants in large genes such as TTN and NEB are frequent in the general population, which hampers the interpretation of putative disease-causing biallelic variants in patients with sporadic neuromuscular disorders. Oft
Externí odkaz:
https://doaj.org/article/43e5137fe16b43bb8cfbbc8eaa443ea1
Autor:
Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, and social functioning
Externí odkaz:
https://doaj.org/article/0f7eaff581a349dd88fde8708bb1f67c
Autor:
Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Abstract Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses
Externí odkaz:
https://doaj.org/article/e5ee5a8d011d4228bc2e2b2882c85e90
Autor:
Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
Abstract Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal recessive disease due to a comp
Externí odkaz:
https://doaj.org/article/091348b090194a35b6fa183d1b10a74b
Autor:
Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski
Publikováno v:
PLoS ONE, Vol 17, Iss 5, p e0267793 (2022)
The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection me
Externí odkaz:
https://doaj.org/article/bdeb40436e6343f8a22bc2390219ceff
Autor:
Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11995 (2022)
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was abl
Externí odkaz:
https://doaj.org/article/a584738b8a154bf3a5f440be4bc9ce1d
Autor:
Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies
Externí odkaz:
https://doaj.org/article/7b793b20033f4da8837130c6461f81e4
Autor:
A. Daron, James J. Dowling, Carole Vuillerot, Severine Denis, Bruno Boulanger, Rémi Bellance, Jean-Michel Arnal, Carina Wallgren-Pettersson, Kimberly Amburgey, Etsuko Tsuchiya, A. Hernandez, Jean-Marie Cuisset, Bradley P. Carlin, Enrico Bertini, Andrea Gangfuß, Barbara Andres, Arnaud Monseur, E. Gargaun, Dominique Duchene, Ruxandra Cardas, Virginie Latournerie, Ana Buj-Bello, Ulrike Schara, Basil T. Darras, H. Landy, V. Chê, Chris Freitag, Laurent Servais, S. Fontaine, Adele D'Amico, Jean-Yves Hogrel, Teresa Gidaro, Nacera Reguiba, Andreea Mihaela Seferian, L. Thielemans, Valérie Biancalana, Michèle Mayer, Capucine de Lattre
Publikováno v:
Statistics in Biosciences. 14:237-258
The small sample sizes inherent in rare and pediatric disease settings offer significant challenges for clinical trial design. In such settings, Bayesian adaptive trial methods can often pay dividends, allowing the sensible incorporation of auxiliary
Publikováno v:
Laitila, J & Wallgren-Pettersson, C 2021, ' Recent advances in nemaline myopathy ', Neuromuscular Disorders, vol. 31, no. 10, pp. 955-967 . https://doi.org/10.1016/j.nmd.2021.07.012
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding stru
Autor:
Katarina Pelin, K. Kiiski, Manu Jokela, Maria Gardberg, Peter Hackman, Salla Välipakka, L. Sagath, Vilma Lotta Lehtokari, Anna Vihola, Bjarne Udd, Carina Wallgren-Pettersson
We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is ambulant and current
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abca50d44ce3335c33dc600d1e26677
http://hdl.handle.net/10138/345178
http://hdl.handle.net/10138/345178