Trepo - Selaus tekijän mukaan "Udd, Bjarne"
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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Jokela, Manu; Lehtinen, Sara; Palmio, Johanna; Saukkonen, Anna-Maija; Huovinen, Sanna; Vihola, Anna; Udd, Bjarne (2019)
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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Rossi, Daniela; Palmio, Johanna; Evilä, Anni; Galli, Lucia; Barone, Virginia; Caldwell, Tracy A; Policke, Rachel A; Aldkheil, Esraa; Berndsen, Christopher E; Wright, Nathan T; Malfatti, Edoardo; Brochier, Guy; Pierantozzi, Enrico; Jordanova, Albena; Guergueltcheva, Velina; Romero, Norma Beatriz; Hackman, Peter; Eymard, Bruno; Udd, Bjarne; Sorrentino, Vincenzo (2017)
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Actininopathy : A New Muscular Dystrophy Caused by ACTN2 Dominant Mutations
Savarese, Marco; Palmio, Johanna; Poza, Juan Jose; Weinberg, Jan; Olive, Montse; Cobo, Ana Maria; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; García-Bragado, Federico; Urtizberea, Jon Andoni; Hackman, Peter; Udd, Bjarne (2019)
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Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
Udd, Bjarne (2022)
article<p>Objective: Mutations in the prion-like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ... -
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Vihola, Anna; Palmio, Johanna; Udd, Bjarne (2022)
article<p>Objective: Inclusion body myositis (IBM) has an unclear molecular etiology exhibiting both characteristic inflammatory T-cell activity and rimmed-vacuolar degeneration of muscle fibers. Using in-depth gene expression ... -
Copy number variation analysis increases the diagnostic yield in muscle diseases
Välipakka, Salla; Savarese, Marco; Johari, Mridul; Sagath, Lydia; Arumille, Meharji; Kiiski, Kirsi; Sáenz, Amets; Lopez de Munain, Adolfo; Cobo, Ana-Maria; Pelin, Katarina; Udd, Bjarne; Hackman, Peter (2018)
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Current advance on distal myopathy genetics
Udd, Bjarne (10 / 2024)
reviewarticle<p>Purpose of review Distal myopathies are a clinically heterogenous group of rare, genetic muscle diseases, that present with weakness in hands and/or feet at onset. Some of these diseases remain accentuated in the distal ... -
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Sandell, Satu; Huovinen, Sanna; Palmio, Johanna; Raheem, Olayinka; Lindfors, Mikaela; Zhao, Fang; Haapasalo, Hannu; Udd, Bjarne (2016)
articleLimb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function ... -
Distaaliset myopatiat – laajeneva kirjo erilaisia tauteja myös Suomessa
Palmio, Johanna; Jokela, Manu; Sandell, Satu; Suominen, Tiina; Penttilä, Sini; Udd, Bjarne (2016)
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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders
Jokela, Manu; Huovinen, Sanna; Raheem, Olayinka; Lindfors, Mikaela; Palmio, Johanna; Penttilä, Sini; Udd, Bjarne (2016)
articleThe objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal ... -
Expanding the importance of HMERF titinopathy : new mutations and clinical aspects
Palmio, Johanna; Leonard-Louis, Sarah; Sacconi, Sabrina; Savarese, Marco; Penttilä, Sini; Semmler, Anna‑Lena; Kress, Wolfram; Mozaffar, Tahseen; Lai, Tim; Stojkovic, Tanya; Berardo, Andres; Reisin, Ricardo; Attarian, Shahram; Urtizberea, Andoni; Cobo, Ana Maria; Maggi, Lorenzo; Kurbatov, Sergei; Nikitin, Sergei; Milisenda, José C.; Fatehi, Farzad; Raimondi, Monika; Silveira, Fernando; Hackman, Peter; Claeys, Kristl G.; Udd, Bjarne (2019)
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Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy
Screen, Mark; Raheem, Olayinka; Holmlund-Hampf, Jeanette; Jonson, Per Harald; Huovinen, Sanna; Hackman, Peter; Udd, Bjarne (2014)
articleTibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations ... -
Hartia-lantiodystrofioiden (LGMD) kasvava kirjo - uusia tautigeenejä löytyy myös Suomesta
Jokela, Manu; Palmio, Johanna; Sandell, Satu; Penttilä, Sini; Suominen, Tiina; Udd, Bjarne (2013)
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Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity
Palmio, Johanna; Videman, Karoliina; Lehtinen, Sara; Udd, Bjarne (07.05.2024)
article<p>Background and Objectives Description of 15 patients with the same variant in DOK7 causing congenital myasthenic syndrome (CMS).MethodsNine adult and 6 pediatric patients were studied with molecular genetic and clinical ... -
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
Udd, Bjarne (2020)
article<p>Human genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. ... -
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Vihola, Anna; Jokela, Manu; Udd, Bjarne (2021)
article<p>Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were ... -
Mitokondriaalinen resessiivinen ataksiasyndrooma ja valproaattihoidon toksisuus
Hakonen, Anna H; Isohanni, Pirjo; Rantamäki, Maria; Kälviäinen, Reetta; Nordin, Arno; Uusimaa, Johanna; Paetau, Anders; Udd, Bjarne; Pihko, Helena; Wartovaara, Anu (2010)
articleMitokondriaalinen resessiivinen ataksiasyndrooma (MIRAS) voi ilmetä lapsuus-, nuoruus- tai aikuisiällä. Tauti johtuu polymeraasi gamma -geenin mutaatioista. Oireisto vaihtelee lasten enkefaliitin tyyppisestä akuutista ... -
Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4
Elia, Nathaniel; Palmio, Johanna; Castaneda, Marisol Sampedro; Shieh, Perry B.; Quinonez, Marbella; Suominen, Tiina; Hanna, Michael G.; Männikkö, Roope; Udd, Bjarne; Cannon, Stephen C. (2019)
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé, Montse; Engvall, Martin; Ravenscroft, Gianina; Udd, Bjarne et al. (2019)
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Neuromuscular diseases due to chaperone mutations: A review and some new results
Sarparanta, Jaakko; Jonson, Per Harald; Kawan, Sabita; Udd, Bjarne (2020)
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