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

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

doi:10.1007/s00401-021-02319-x

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

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 HuovinenPäivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Acta Neuropathologica
Volym	142
Sidor (från-till)	375-393
Antal sidor	19
ISSN	0001-6322
DOI	https://doi.org/10.1007/s00401-021-02319-x
Status	Publicerad - aug. 2021
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper

Åtkomst av dokument

10.1007/s00401-021-02319-x

Johari2021_Article_MissenseMutationsInSmallMuscleSlutlig publicerad version, 2,98 MBLicens: CC BY

Citera det här

Johari, M., Sarparanta, J., Vihola, A., Jonson, P. H., Savarese, M., Jokela, M., Torella, A., Piluso, G., Said, E., Vella, N., Cauchi, M., Magot, A., Magri, F., Mauri, E., Kornblum, C., Reimann, J., Stojkovic, T., Romero, N. B., Luque, H., ... Udd, B. (2021). Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathologica, 142, 375-393. https://doi.org/10.1007/s00401-021-02319-x

@article{0a3171c0b4624631ac5013d0af23b816,

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

keywords = "X-linked, Distal myopathy, Proteinopathy, Amyloidogenesis, Stress granules, HEARING-LOSS, MULTISYSTEM PROTEINOPATHY, PHASE-SEPARATION, RARE FORM, AGE, 3112 Neurosciences",

author = "Mridul Johari and Jaakko Sarparanta and Anna Vihola and Jonson, {Per Harald} and Marco Savarese and Manu Jokela and Annalaura Torella and Giulio Piluso and Edith Said and Norbert Vella and Marija Cauchi and Armelle Magot and Francesca Magri and Eleonora Mauri and Cornelia Kornblum and Jens Reimann and Tanya Stojkovic and Romero, {Norma B.} and Helena Luque and Sanna Huovinen and P{\"a}ivi Lahermo and Kati Donner and Comi, {Giacomo Pietro} and Vincenzo Nigro and Peter Hackman and Bjarne Udd",

year = "2021",

month = aug,

doi = "10.1007/s00401-021-02319-x",

language = "English",

volume = "142",

pages = "375--393",

journal = "Acta Neuropathologica",

issn = "0001-6322",

publisher = "Springer",

}

Johari, M , Sarparanta, J , Vihola, A, Jonson, PH, Savarese, M, Jokela, M, Torella, A, Piluso, G, Said, E, Vella, N, Cauchi, M, Magot, A, Magri, F, Mauri, E, Kornblum, C, Reimann, J, Stojkovic, T, Romero, NB, Luque, H, Huovinen, S, Lahermo, P , Donner, K, Comi, GP, Nigro, V, Hackman, P & Udd, B 2021, 'Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions', Acta Neuropathologica, vol. 142, s. 375-393. https://doi.org/10.1007/s00401-021-02319-x

TY - JOUR

T1 - Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

AU - Johari, Mridul

AU - Sarparanta, Jaakko

AU - Vihola, Anna

AU - Jonson, Per Harald

AU - Savarese, Marco

AU - Jokela, Manu

AU - Torella, Annalaura

AU - Piluso, Giulio

AU - Said, Edith

AU - Vella, Norbert

AU - Cauchi, Marija

AU - Magot, Armelle

AU - Magri, Francesca

AU - Mauri, Eleonora

AU - Kornblum, Cornelia

AU - Reimann, Jens

AU - Stojkovic, Tanya

AU - Romero, Norma B.

AU - Luque, Helena

AU - Huovinen, Sanna

AU - Lahermo, Päivi

AU - Donner, Kati

AU - Comi, Giacomo Pietro

AU - Nigro, Vincenzo

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2021/8

Y1 - 2021/8

KW - X-linked

KW - Distal myopathy

KW - Proteinopathy

KW - Amyloidogenesis

KW - Stress granules

KW - HEARING-LOSS

KW - MULTISYSTEM PROTEINOPATHY

KW - PHASE-SEPARATION

KW - RARE FORM

KW - AGE

KW - 3112 Neurosciences

U2 - 10.1007/s00401-021-02319-x

DO - 10.1007/s00401-021-02319-x

M3 - Article

VL - 142

SP - 375

EP - 393

JO - Acta Neuropathologica

JF - Acta Neuropathologica

SN - 0001-6322

ER -