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

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Journal of Neurology
Volume	266
Issue number	3
Pages (from-to)	680-690
Number of pages	11
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-019-09187-2
Publication status	Published - Mar 2019
MoE publication type	A1 Journal article-refereed

Fields of Science

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

Access to Document

10.1007/s00415-019-09187-2

Palmio2019_Article_ExpandingTheImportanceOfHMERFTFinal published version, 1.08 MBLicence: CC BY

https://rdcu.be/br5Zs

Cite this

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, no. 3, pp. 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

SN - 0340-5354

VL - 266

SP - 680

EP - 690

JO - Journal of Neurology

JF - Journal of Neurology

IS - 3

ER -