Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Johanna Palmio; Sarah Leonard-Louis; Sabrina Sacconi; Marco Savarese; Sini Penttilä; Anna-Lena Semmler; Wolfram Kress; Tahseen Mozaffar; Tim Lai; Tanya Stojkovic; Andres Berardo; Ricardo Reisin; Shahram Attarian; Andoni Urtizberea; Ana Maria Cobo; Lorenzo Maggi; Sergei Kurbatov; Sergei Nikitin; Jose C. Milisenda; Farzad Fatehi; Monika Raimondi; Fernando Silveira; Peter Hackman; Kristl G. Claeys; Bjarne Udd

doi:10.1007/s00415-019-09187-2

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Johanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, Marco Savarese, Sini Penttilä, Anna-Lena Semmler, Wolfram Kress, Tahseen Mozaffar, Tim Lai, Tanya Stojkovic, Andres Berardo, Ricardo Reisin, Shahram Attarian, Andoni Urtizberea, Ana Maria Cobo, Lorenzo Maggi, Sergei Kurbatov, Sergei Nikitin, Jose C. Milisenda, Farzad FatehiMonika Raimondi, Fernando Silveira, Peter Hackman, Kristl G. Claeys, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Neurology
Volym	266
Nummer	3
Sidor (från-till)	680-690
Antal sidor	11
ISSN	0340-5354
DOI	https://doi.org/10.1007/s00415-019-09187-2
Status	Publicerad - mars 2019
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper
3124 Neurologi och psykiatri

Åtkomst av dokument

10.1007/s00415-019-09187-2

Palmio2019_Article_ExpandingTheImportanceOfHMERFTSlutlig publicerad version, 1,08 MBLicens: CC BY

https://rdcu.be/br5Zs

Citera det här

Palmio, J., Leonard-Louis, S., Sacconi, S., Savarese, M., Penttilä, S., Semmler, A-L., Kress, W., Mozaffar, T., Lai, T., Stojkovic, T., Berardo, A., Reisin, R., Attarian, S., Urtizberea, A., Cobo, A. M., Maggi, L., Kurbatov, S., Nikitin, S., Milisenda, J. C., ... Udd, B. (2019). Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. Journal of Neurology, 266(3), 680-690. https://doi.org/10.1007/s00415-019-09187-2

@article{7b775a8fe4f049fd99236e0833677c5a,

title = "Expanding the importance of HMERF titinopathy: new mutations and clinical aspects",

keywords = "Hereditary myopathy, Respiratory failure, Titin, Titinopathy, mutations, EARLY RESPIRATORY-FAILURE, HEREDITARY MYOPATHY, DISEASE ALLELE, INVOLVEMENT, BODIES, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Johanna Palmio and Sarah Leonard-Louis and Sabrina Sacconi and Marco Savarese and Sini Penttil{\"a} and Anna-Lena Semmler and Wolfram Kress and Tahseen Mozaffar and Tim Lai and Tanya Stojkovic and Andres Berardo and Ricardo Reisin and Shahram Attarian and Andoni Urtizberea and Cobo, {Ana Maria} and Lorenzo Maggi and Sergei Kurbatov and Sergei Nikitin and Milisenda, {Jose C.} and Farzad Fatehi and Monika Raimondi and Fernando Silveira and Peter Hackman and Claeys, {Kristl G.} and Bjarne Udd",

year = "2019",

month = mar,

doi = "10.1007/s00415-019-09187-2",

language = "English",

volume = "266",

pages = "680--690",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "Springer Heidelberg",

number = "3",

}

Palmio, J, Leonard-Louis, S, Sacconi, S, Savarese, M, Penttilä, S, Semmler, A-L, Kress, W, Mozaffar, T, Lai, T, Stojkovic, T, Berardo, A, Reisin, R, Attarian, S, Urtizberea, A, Cobo, AM, Maggi, L, Kurbatov, S, Nikitin, S, Milisenda, JC, Fatehi, F, Raimondi, M, Silveira, F, Hackman, P, Claeys, KG & Udd, B 2019, 'Expanding the importance of HMERF titinopathy: new mutations and clinical aspects', Journal of Neurology, vol. 266, nr. 3, s. 680-690. https://doi.org/10.1007/s00415-019-09187-2

TY - JOUR

T1 - Expanding the importance of HMERF titinopathy

T2 - new mutations and clinical aspects

AU - Palmio, Johanna

AU - Leonard-Louis, Sarah

AU - Sacconi, Sabrina

AU - Savarese, Marco

AU - Penttilä, Sini

AU - Semmler, Anna-Lena

AU - Kress, Wolfram

AU - Mozaffar, Tahseen

AU - Lai, Tim

AU - Stojkovic, Tanya

AU - Berardo, Andres

AU - Reisin, Ricardo

AU - Attarian, Shahram

AU - Urtizberea, Andoni

AU - Cobo, Ana Maria

AU - Maggi, Lorenzo

AU - Kurbatov, Sergei

AU - Nikitin, Sergei

AU - Milisenda, Jose C.

AU - Fatehi, Farzad

AU - Raimondi, Monika

AU - Silveira, Fernando

AU - Hackman, Peter

AU - Claeys, Kristl G.

AU - Udd, Bjarne

PY - 2019/3

Y1 - 2019/3

KW - Hereditary myopathy

KW - Respiratory failure

KW - Titin

KW - Titinopathy

KW - mutations

KW - EARLY RESPIRATORY-FAILURE

KW - HEREDITARY MYOPATHY

KW - DISEASE ALLELE

KW - INVOLVEMENT

KW - BODIES

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1007/s00415-019-09187-2

DO - 10.1007/s00415-019-09187-2

M3 - Article

VL - 266

SP - 680

EP - 690

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 3

ER -