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List of works by Mridul Johari

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

scientific article published on 06 March 2019

Association study reveals novel risk loci for sporadic inclusion body myositis.

scientific article

Copy number variation analysis increases the diagnostic yield in muscle diseases

scientific article published on 11 December 2017

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

scientific article published on 27 October 2021

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

scientific article published on 02 July 2019

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

scientific article published on 11 May 2021

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

scientific article published on 13 February 2018

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

scientific article published on 29 October 2019

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

scientific article published on 21 August 2013

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