Mridul Johari (M Johari)

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 21

Top Venues

Communications biology

European journal of human genetics : EJHG

European journal of neurology

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. Journal of medical genetics (2024)
Huahua Zhong, Veronica Sian, Mridul Johari, Shintaro Katayama, Ali Oghabian, Per Harald Jonson, Peter Hackman, Marco Savarese, Bjarne Udd
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions. Communications biology 7 (1) (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan J Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement. medRxiv : the preprint server for health sciences (2024)
Huahua Zhong, Veronica Sian, Mridul Johari, Shintaro Katayama, Ali Oghabian, Per Harald Jonson, Peter Hackman, Marco Savarese, Bjarne Udd
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions. Communications biology 7 (1) (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan J Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement. medRxiv : the preprint server for health sciences (2024)
Silvia Kalantari, Raquel Gouveia Silva, Mridul Johari, Jose Carlos P Ferreira, Mirella Parachini
Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe? European journal of human genetics : EJHG (2024)
Huahua Zhong, Veronica Sian, Mridul Johari, Shintaro Katayama, Ali Oghabian, Per Harald Jonson, Peter Hackman, Marco Savarese, Bjarne Udd
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions. Communications biology 7 (1) (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. Journal of medical genetics (2024)
Huahua Zhong, Veronica Sian, Mridul Johari, Shintaro Katayama, Ali Oghabian, Per Harald Jonson, Peter Hackman, Marco Savarese, Bjarne Udd
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions. Communications biology 7 (1) (2024)
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera-de Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A Kurbatov, Tania Attie-Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese
Inferring disease course from differential exon usage in the wide titinopathy spectrum. Annals of clinical and translational neurology (2024)
Elena Avram, Can Ding, Juliana Xavier de Miranda Cerqueira, Mridul Johari, Ana Raquel Gouveia Freitas da Silva, Ileana-Delia Săbău, Nurulamin M Noor, Silvia Kalantari, Rhys Dore, Rita Barbosa-Matos, Magdalena Mroczek, Francesca Tonini, null null
The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022. European journal of human genetics : EJHG (2023)
Mohamed Zahir Alimohamed, Khuthala Mnika, Samuel Mawuli Adadey, Rita Barbosa-Matos, Elena Avram, Patracia Nevondwe, Wisdom A Akurugu, Wilson Mupfururirwa, Juliana Xavier de Miranda Cerqueira, Rhys Dore, Ileana-Delia Săbău, Silvia Kalantari, Ana Raquel Gouveia Freitas da Silva, Abbas Abel Anzaku, Alice Matimba, Paballo Abel Chauke, Mridul Johari, Victoria Nembaware, Magdalena Mroczek
Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum. European journal of human genetics : EJHG (2023)
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil İbrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O'Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain : a journal of neurology 145 (11) (2022)
Mridul Johari, Anna Vihola, Johanna Palmio, Manu Jokela, Per Harald Jonson, Jaakko Sarparanta, Sanna Huovinen, Marco Savarese, Peter Hackman, Bjarne Udd
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis. Journal of neurology 269 (8) (2022)
Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Margarita Chrysanthou-Piterou, Salla M Rusanen, Marco Savarese, Peter Hackman, Bjarne Udd
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. Annals of clinical and translational neurology 9 (10) (2022)
Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum, Jens Reimann, Tanya Stojkovic, Norma B Romero, Helena Luque, Sanna Huovinen, Päivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bjarne Udd
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta neuropathologica 142 (2) (2021)
Marco Savarese, Anna Vihola, Manu E Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Previtali Stefano Carlo, Bjarne Udd
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. Neurology. Genetics 7 (5) (2021)
Peter Hackman, Salla M Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. Neurology. Genetics 7 (6) (2021)
Manu Jokela, Giorgio Tasca, Anna Vihola, Eugenio Mercuri, Per Harald Jonson, Sara Lehtinen, Salla M Rusanen, Marika Pane, Maria Donati, Mridul Johari, Marco Savarese, Sanna Huovinen, Pirjo Isohanni, Johanna Palmio, Päivi Hartikainen, Bjarne Udd
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. Neurology 92 (14) (2019)
Per Harald Jonson, J Palmio, Mridul Johari, S Penttilä, A Evilä, I Nelson, G Bonne, N Wiart, V Meyer, A Boland, J-F Deleuze, C Masson, T Stojkovic, F Chapon, N B Romero, G Solé, X Ferrer, A Ferreiro, P Hackman, I Richard, B Udd
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. European journal of neurology 25 (5) (2018)
Mridul Johari, M Arumilli, J Palmio, M Savarese, G Tasca, M Mirabella, N Sandholm, H Lohi, P Hackman, B Udd
Association study reveals novel risk loci for sporadic inclusion body myositis. European journal of neurology 24 (4) (2017)

Mridul Johari.css-eqlu8i{font-size:small;padding-left:4px;} (M Johari)

Publication Activity (10 Years)

Top Topics

Top Venues

Mridul Johari (M Johari)