Mridul Johari - Dissemin

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All papers authored by Mridul Johari

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2022 Mridul Johari

ORCID

, 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

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2021 Macarena Cabrera-Serrano

ORCID

, Laure Caccavelli, Marco Savarese

ORCID

, Anna Vihola, Manu Jokela, Mridul Johari

ORCID

, Thierry Capiod, Marine Madrange, Enrico Bugiardini

ORCID

, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden

ORCID

and 24 other authors

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

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Peter Hackman

ORCID

, Salla M. Rusanen

ORCID

, Mridul Johari

ORCID

ORCID

, Per Harald Jonson

ORCID

, Jaakko Sarparanta

ORCID

ORCID

, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh

ORCID

ORCID

, Meharji Arumilli

ORCID

, Marco Savarese

ORCID

and 1 other authors

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Solve-Rd Consortium, Birte Zurek, Kornelia Ellwanger, Lisenka E. L. M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A. C. ’t Hoen, Antonio Vitobello, Julia M. Schulze Hentrich and 35 other authors

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Carles Hernández-Ferrer, Leslie Matalonga, Davide Piscia, Isabel Cuesta, Solve Rd Ditf Genturis, Christian Gilissen, Solve Rd Ditf Ithaca, Solve-Rd Ditf-Euronmd, Mridul Johari

ORCID

, Steven Laurie, Anne-Sophie Denommé-Pichon, Joeri K. van der Velde, Shuang Li, Solve Rd Ditf Rnd, Sophia Peters and 248 other authors

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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This paper was not found in any repository, but could be made available legally by the author.

Mridul Johari

ORCID

, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson

ORCID

, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum and 11 other authors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

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Corrie E. Erasmus, Rebecca Schüle, Dagmar Timmann, Henry Houlden, Erik-Jan Kamsteeg, Christoph Kamsteeg, Bart van de Warrenburg, Katja Lohmann, Jennifer Reichbauer, Alfons Macaya, Melanie Wayand, Anna Marcé-Grau, Ales Maver, Maria Judit Molnar, Ludger Schöls and 205 other authors

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Mridul Johari

ORCID

Molecular Genetics of Inclusion Body Myositis and Late-Onset Rimmed-Vacuolar Distal Myopathy

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2020 Marco Savarese, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson

ORCID

, Mridul Johari

ORCID

, Salla Rusanen, Peter Hackman, Bjarne Udd

Panorama of the distal myopathies

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Marco Savarese

ORCID

, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sarkozy, Sushan Luo, Jordi Díaz-Manera, Christoffer Ehrstedt, Ricardo Rojas-García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo and 26 other authors

Genotype–phenotype correlations in recessive titinopathies

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Marco Savarese, Talha Qureshi, Annalaura Torella, Pia Laine, Teresa Giugliano, Per Harald Jonson

ORCID

, Mridul Johari

ORCID

, Lars Paulin, Giulio Piluso, Petri Auvinen, Vincenzo Nigro, Bjarne Udd, Peter Hackman

Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)

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Marco Savarese, Mridul Johari

ORCID

, Katherine Johnson, Meharji Arumilli, Annalaura Torella, Ana Töpf, Anna Rubegni, Marius Kuhn, Teresa Giugliano, Dieter Gläser, Fabiana Fattori, Rachel Thompson, Sini Penttilä, Sara Lehtinen, Sara Gibertini and 13 other authors

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

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Marco Savarese, Salla Välipakka, Mridul Johari

ORCID

, Peter Hackman, Bjarne Udd

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

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2019 Samantha J. Bryen

ORCID

, Lisa J. Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O'Grady, Beryl Cummings, Katherine R. Chao, Ben Weisburd, Laurent Francioli, Fathimath Faiz, Adam M. Bournazos

ORCID

, Ying Hu and 20 other authors

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

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This paper was not found in any repository, but could be made available legally by the author.

Andrés Berardo, Xavière Lornage, Mridul Johari

ORCID

, Teresinha Evangelista, Claudia Cejas, Fabio Barroso, Alberto Dubrovsky, Mai Thao Bui, Guy Brochier, Maria Saccoliti, Johann Bohm, Bjarne Udd, Jocelyn Laporte, Norma Beatriz Romero, Ana Lia Taratuto

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Manu Jokela

ORCID

, Giorgio Tasca

ORCID

ORCID

, Eugenio Mercuri

ORCID

, Per-Harald Jonson

ORCID

, Sara Lehtinen, Salla Välipakka

ORCID

, Marika Pane, Maria Donati, Mridul Johari

ORCID

, Marco Savarese

ORCID

, Sanna Huovinen, Pirjo Isohanni, Johanna Palmio, Päivi Hartikainen and 1 other authors

An unusual ryanodine receptor 1 (RYR1) phenotype

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This paper was not found in any repository, but could be made available legally by the author.

2018 P. H. Jonson

ORCID

, J. Palmio, M. Johari

ORCID

, 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 and 6 other authors

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

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YouJin Lee, Per Harald Jonson

ORCID

, Jaakko Sarparanta

ORCID

, Johanna Palmio, Mohona Sarkar, Anna Vihola, Anni Evilä, Tiina Suominen, Sini Penttilä, Marco Savarese

ORCID

, Mridul Johari

ORCID

, Marie-Christine Minot, David Hilton-Jones, Paul Maddison, Patrick Chinnery and 13 other authors

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

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2017 Salla Välipakka, Adolfo Lopez de Munain, Marco Savarese, Mridul Johari

ORCID

, Lydia Sagath, Meharji Arumilli, Kirsi Kiiski, Amets Sáenz, Adolfo Lopez de Munain, Ana-Maria Cobo, Katarina Pelin, Bjarne Udd, Peter Hackman

Copy number variation analysis increases the diagnostic yield in muscle diseases

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