M. Johari

发表

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

B. Udd, M. Savarese, P. Hackman, 2020, Journal of neuromuscular diseases.

N. Romero, T. Evangelista, J. Laporte, 2019, Journal of Neurology.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

B. Udd, A. Vihola, M. Savarese, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Association study reveals novel risk loci for sporadic inclusion body myositis

N. Sandholm, M. Mirabella, H. Lohi, 2017, European journal of neurology.

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

I. Nelson, F. Chapon, I. Richard, 2018, European journal of neurology.

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

B. Udd, C. Papadopoulos, M. Savarese, 2022, Annals of clinical and translational neurology.

An unusual ryanodine receptor 1 (RYR1) phenotype

M. Pane, E. Mercuri, P. Hartikainen, 2019, Neurology.

Mutation update for the ACTN2 gene

J. Böhm, J. Laporte, B. Udd, 2022, Human mutation.

Thyroid autoantibodies and associated complications during pregnancy

M. Azlin, M. Johari, N. Mustafa, 2010, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

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

P. Lahermo, B. Udd, A. Vihola, 2021, Neurology: Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

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

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

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

P. Auvinen, L. Paulin, G. Piluso, 2020, Journal of neuromuscular diseases.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

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

G. Comi, N. Romero, G. Piluso, 2021, Acta Neuropathologica.

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

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

S. Kiuru-Enari, H. Tyynismaa, M. Auranen, 2013, European Journal of Human Genetics.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

B. Udd, J. Palmio, A. Vihola, 2021, bioRxiv.

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

A. Paetau, K. Pelin, V. Lehtokari, 2023, Journal of neuromuscular diseases.

Copy number variation analysis increases the diagnostic yield in muscle diseases

K. Pelin, A. López de Munain, A. Sáenz, 2017, Neurology: Genetics.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

K. Pelin, V. Lehtokari, A. Sulonen, 2024, Scientific reports.

Titin copy number variations associated with dominant inherited phenotypes

L. Guyant‐Maréchal, G. Demidov, B. Udd, 2023, Journal of Medical Genetics.

Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

P. Hackman, M. Johari, P. Jonson, 2024, Communications biology.