Ethics in genetic counselling

por Clarke, Angus J., Wallgren-Pettersson, Carina
Publicado 2018

Centronuclear (myotubular) myopathy

por Jungbluth, Heinz, Wallgren-Pettersson, Carina, Laporte, Jocelyn
Publicado 2008

Nemaline myopathies: a current view

por Sewry, Caroline A., Laitila, Jenni M., Wallgren-Pettersson, Carina
Publicado 2019

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

por Sagath, Lydia, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Publicado 2022

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

por Lehtokari, Vilma-Lotta, Similä, Minna, Tammepuu, Marianne, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Hiekkala, Sinikka
Publicado 2023

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

por Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Publicado 2018

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

por Marttila, Minttu, Hanif, Mubashir, Lemola, Elina, Nowak, Kristen J, Laitila, Jenni, Grönholm, Mikaela, Wallgren-Pettersson, Carina, Pelin, Katarina
Publicado 2014

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

por Lam, Le Thanh, Holt, Ian, Laitila, Jenni, Hanif, Mubashir, Pelin, Katarina, Wallgren-Pettersson, Carina, Sewry, Caroline A., Morris, Glenn E.
Publicado 2018

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

por Lawlor, Michael W, Ottenheijm, Coen A, Lehtokari, Vilma-Lotta, Cho, Kiyomi, Pelin, Katarina, Wallgren-Pettersson, Carina, Granzier, Henk, Beggs, Alan H
Publicado 2011

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

por Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta
Publicado 2023

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

por Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L., Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M., Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B., Machado-Costa, Marcela C., Wallgren-Pettersson, Carina, Laing, Nigel G., Nigro, Vincenzo, Vainzof, Mariz
Publicado 2022

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

por Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
Publicado 2014

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

por Ross, Jacob A., Levy, Yotam, Ripolone, Michela, Kolb, Justin S., Turmaine, Mark, Holt, Mark, Lindqvist, Johan, Claeys, Kristl G., Weis, Joachim, Monforte, Mauro, Tasca, Giorgio, Moggio, Maurizio, Figeac, Nicolas, Zammit, Peter S., Jungbluth, Heinz, Fiorillo, Chiara, Vissing, John, Witting, Nanna, Granzier, Henk, Zanoteli, Edmar, Hardeman, Edna C., Wallgren-Pettersson, Carina, Ochala, Julien
Publicado 2019

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

por Ranu, Natasha, Laitila, Jenni, Dugdale, Hannah F., Mariano, Jennifer, Kolb, Justin S., Wallgren-Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus, Fiorillo, Chiara, Zanoteli, Edmar, Auranen, Mari, Jokela, Manu, Tasca, Giorgio, Claeys, Kristl G., Voermans, Nicol C., Palmio, Johanna, Huovinen, Sanna, Moggio, Maurizio, Beck, Thomas Nyegaard, Kontrogianni-Konstantopoulos, Aikaterini, Granzier, Henk, Ochala, Julien
Publicado 2022

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

por Laitila, Jenni M., McNamara, Elyshia L., Wingate, Catherine D., Goullee, Hayley, Ross, Jacob A., Taylor, Rhonda L., van der Pijl, Robbert, Griffiths, Lisa M., Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua S., Sewry, Caroline, Lawlor, Michael W., Ottenheijm, Coen A. C., Bakker, Anthony J., Ochala, Julien, Laing, Nigel G., Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen J.
Publicado 2020

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb...

por Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G., De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E., Lek, Monkol, MacArthur, Daniel G., Straub, Volker
Publicado 2018