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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2268, doi. 10.1002/acn3.52127
By:
- Mohan, Shruthi;
- McNulty, Shannon;
- Thaxton, Courtney;
- Elnagheeb, Marwa;
- Owens, Emma;
- Flowers, May;
- Nunnery, Teagan;
- Self, Autumn;
- Palus, Brooke;
- Gorokhova, Svetlana;
- Kennedy, April;
- Niu, Zhiyv;
- Johari, Mridul;
- Maiga, Alassane Baneye;
- Macalalad, Kelly;
- Clause, Amanda R.;
- Beckmann, Jacques S.;
- Bronicki, Lucas;
- Cooper, Sandra T.;
- Ganesh, Vijay S.
Publication type:
Article
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Published in:
2022
By:
- Cabrera-Serrano, Macarena;
- Caccavelli, Laure;
- Savarese, Marco;
- Vihola, Anna;
- Jokela, Manu;
- Johari, Mridul;
- Capiod, Thierry;
- Madrange, Marine;
- Bugiardini, Enrico;
- Brady, Stefen;
- Quinlivan, Rosaline;
- Merve, Ashirwad;
- Scalco, Renata;
- Hilton-Jones, David;
- Houlden, Henry;
- Aydin, Halil Ibrahim;
- Ceylaner, Serdar;
- Drewes, Sarah;
- Vockley, Jerry;
- Taylor, Rhonda L
Publication type:
journal article
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 522, doi. 10.1038/ejhg.2013.190
By:
- Ylikallio, Emil;
- Johari, Mridul;
- Konovalova, Svetlana;
- Moilanen, Jukka S;
- Kiuru-Enari, Sari;
- Auranen, Mari;
- Pajunen, Leila;
- Tyynismaa, Henna
Publication type:
Article
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.
Published in:
Epilepsia Open, 2024, v. 9, n. 4, p. 1393, doi. 10.1002/epi4.12966
By:
- Jonsson, Henna;
- Gaily, Eija;
- Stjerna, Susanna;
- Joensuu, Tarja;
- Johari, Mridul;
- Lehesjoki, Anna‐Elina;
- Linnankivi, Tarja
Publication type:
Article
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Published in:
2018
By:
- YouJin Lee;
- Jonson, Per Harald;
- Sarparanta, Jaakko;
- Palmio, Johanna;
- Sarkar, Mohona;
- Vihola, Anna;
- Evilä, Anni;
- Suominen, Tiina;
- Penttilä, Sini;
- Savarese, Marco;
- Johari, Mridul;
- Minot, Marie-Christine;
- Hilton-Jones, David;
- Maddison, Paul;
- Chinnery, Patrick;
- Reimann, Jens;
- Kornblum, Cornelia;
- Kraya, Torsten;
- Zierz, Stephan;
- Sue, Carolyn
Publication type:
journal article
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.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 977, doi. 10.3233/JND-230026
By:
- Pelin, Katarina;
- Sagath, Lydia;
- Lehtonen, Johanna;
- Kiiski, Kirsi;
- Tynninen, Olli;
- Paetau, Anders;
- Johari, Mridul;
- Savarese, Marco;
- Wallgren-Pettersson, Carina;
- Lehtokari, Vilma-Lotta
Publication type:
Article
Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 10, p. 1660, doi. 10.1002/acn3.51665
By:
- Johari, Mridul;
- Papadimas, George;
- Papadopoulos, Constantinos;
- Xirou, Sophia;
- Kanavaki, Aikaterini;
- Chrysanthou‐Piterou, Margarita;
- Rusanen, Salla;
- Savarese, Marco;
- Hackman, Peter;
- Udd, Bjarne
Publication type:
Article
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3029, doi. 10.1093/hmg/ddad058
By:
- Sarparanta, Jaakko;
- Jonson, Per Harald;
- Reimann, Jens;
- Vihola, Anna;
- Luque, Helena;
- Penttilä, Sini;
- Johari, Mridul;
- Savarese, Marco;
- Hackman, Peter;
- Kornblum, Cornelia;
- Udd, Bjarne
Publication type:
Article
Panorama of the distal myopathies.
Published in:
Acta Myologica, 2020, v. 39, n. 4, p. 245, doi. 10.36185/2532-1900-028
By:
- Savarese, Marco;
- Sarparanta, Jaakko;
- Vihola, Anna;
- Jonson, Per Harald;
- Johari, Mridul;
- Rusanen, Salla;
- Hackman, Peter;
- Udd, Bjarne
Publication type:
Article
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
Published in:
Journal of Neurology, 2022, v. 269, n. 8, p. 4161, doi. 10.1007/s00415-022-11029-7
By:
- Johari, Mridul;
- Vihola, Anna;
- Palmio, Johanna;
- Jokela, Manu;
- Jonson, Per Harald;
- Sarparanta, Jaakko;
- Huovinen, Sanna;
- Savarese, Marco;
- Hackman, Peter;
- Udd, Bjarne
Publication type:
Article
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
Published in:
Journal of Neurology, 2019, v. 266, n. 10, p. 2524, doi. 10.1007/s00415-019-09437-3
By:
- Berardo, Andrés;
- Lornage, Xavière;
- Johari, Mridul;
- Evangelista, Teresinha;
- Cejas, Claudia;
- Barroso, Fabio;
- Dubrovsky, Alberto;
- Bui, Mai Thao;
- Brochier, Guy;
- Saccoliti, Maria;
- Bohm, Johann;
- Udd, Bjarne;
- Laporte, Jocelyn;
- Romero, Norma Beatriz;
- Taratuto, Ana Lia
Publication type:
Article
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Published in:
Acta Neuropathologica, 2021, v. 142, n. 2, p. 375, doi. 10.1007/s00401-021-02319-x
By:
- Johari, Mridul;
- Sarparanta, Jaakko;
- Vihola, Anna;
- Jonson, Per Harald;
- Savarese, Marco;
- Jokela, Manu;
- Torella, Annalaura;
- Piluso, Giulio;
- Said, Edith;
- Vella, Norbert;
- Cauchi, Marija;
- Magot, Armelle;
- Magri, Francesca;
- Mauri, Eleonora;
- Kornblum, Cornelia;
- Reimann, Jens;
- Stojkovic, Tanya;
- Romero, Norma B.;
- Luque, Helena;
- Huovinen, Sanna
Publication type:
Article
An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6496088
By:
- Clayton, Joshua S.;
- Johari, Mridul;
- Taylor, Rhonda L.;
- Dofash, Lein;
- Allan, Georgina;
- Monahan, Gavin;
- Houweling, Peter J.;
- Ravenscroft, Gianina;
- Laing, Nigel G.;
- Aziz, Aziz ur Rehman
Publication type:
Article
Mutation update for the ACTN2 gene.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
By:
- Ranta‐aho, Johanna;
- Olive, Montse;
- Vandroux, Marie;
- Roticiani, Giorgia;
- Dominguez, Cristina;
- Johari, Mridul;
- Torella, Annalaura;
- Böhm, Johann;
- Turon, Janina;
- Nigro, Vincenzo;
- Hackman, Peter;
- Laporte, Jocelyn;
- Udd, Bjarne;
- Savarese, Marco
Publication type:
Article
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Published in:
Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06143-3
By:
- Zhong, Huahua;
- Sian, Veronica;
- Johari, Mridul;
- Katayama, Shintaro;
- Oghabian, Ali;
- Jonson, Per Harald;
- Hackman, Peter;
- Savarese, Marco;
- Udd, Bjarne
Publication type:
Article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Article
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
2024
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Correction Notice
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Article
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4
By:
- Lehtonen, Johanna;
- Sulonen, Anna-Maija;
- Almusa, Henrikki;
- Lehtokari, Vilma-Lotta;
- Johari, Mridul;
- Palva, Aino;
- Hakonen, Anna H.;
- Wartiovaara, Kirmo;
- Lehesjoki, Anna-Elina;
- Udd, Bjarne;
- Wallgren-Pettersson, Carina;
- Pelin, Katarina;
- Savarese, Marco;
- Saarela, Janna
Publication type:
Article

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