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International and National Collaboration Publications and projects within past five years.

Publications

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

Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Topf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bonnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., Feb 2020, In : Human Mutation. 41, 2, p. 403-411 9 p.

Research output: Contribution to journalArticleScientificpeer-review

An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy

Jokela, M., Tasca, G., Vihola, A., Mercuri, E., Jonson, P-H., Lehtinen, S., Välipakka, S., Pane, M., Donati, M., Johari, M., Savarese, M., Huovinen, S., Isohanni, P., Palmio, J., Hartikainen, P. & Udd, B., 2 Apr 2019, In : Neurology. 92, 14, p. E1600-E1609 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Berardo, A., Lornage, X., Johari, M., Evangelista, T., Cejas, C., Barroso, F., Dubrovsky, A., Bui, M. T., Brochier, G., Saccoliti, M., Bohm, J., Udd, B., Laporte, J., Romero, N. B. & Taratuto, A. L., Oct 2019, In : Journal of Neurology. 266, 10, p. 2524-2534 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evila, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J. -F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Sole, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I. & 1 others, Udd, B., May 2018, In : European Journal of Neurology. 25, 5, p. 790-794 5 p.

Research output: Contribution to journalArticleScientificpeer-review

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Lee, Y., Jonson, P. H., Sarparanta, J., Palmio, J., Sarkar, M., Vihola, A., Evilä, A., Suominen, T., Penttila, S., Savarese, M., Johari, M., Minot, M-C., Hilton-Jones, D., Maddison, P., Chinnery, P., Reimann, J., Kornblum, C., Kraya, T., Zierz, S., Sue, C. & 8 others, Goebel, H., Azfer, A., Ralston, S. H., Hackman, P., Bucelli, R. C., Taylor, J. P., Weihl, C. C. & Udd, B., 1 Mar 2018, In : Journal of Clinical Investigation. 128, 3, p. 1164-1177 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Projects

Activities

  • 4 Membership or other role in national/international committee, council, board
  • 3 Organisation and participation in conferences, workshops, courses, seminars
  • 1 Supervision of other thesis (Master's, Licentiate)
  • 1 Academic visit at UH

Doc­toral Pro­gramme in In­teg­rat­ive Life Sci­ence (Organisational unit)

Mridul Johari (Board member)
1 Jan 201831 Dec 2019

Activity: Membership typesMembership or other role in national/international committee, council, board

Helsinki Life Science Day

Mridul Johari (Member of organizing committee)
Mar 2017Nov 2017

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

TEDxHelsinkiUniversity 2018

Mridul Johari (Member of organizing committee)
Nov 2017May 2018

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Rajat Singh

Mridul Johari (Host)
28 Aug 2017

Activity: Hosting a visitor typesAcademic visit at UH

TEDxHelsinkiUniversity

Mridul Johari (Member of organizing committee)
Nov 2016May 2017

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars