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Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. / Gavassini, Bruno F; Carboni, Nicola; Nielsen, Jørgen E; Danielsen, Else R; Thomsen, Carsten; Svenstrup, Kirsten; Bello, Luca; Maioli, Maria Antonietta; Marrosu, Giovanni; Ticca, Anna Filomena; Mura, Marco; Marrosu, Maria Giovanna; Soraru, Gianni; Angelini, Corrado; Vissing, John; Pegoraro, Elena.
I:
Muscle & Nerve, Bind 44, Nr. 5, 11.2011, s. 703-9.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Gavassini, BF, Carboni, N
, Nielsen, JE, Danielsen, ER, Thomsen, C, Svenstrup, K, Bello, L, Maioli, MA, Marrosu, G, Ticca, AF, Mura, M, Marrosu, MG, Soraru, G, Angelini, C
, Vissing, J & Pegoraro, E 2011, '
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations',
Muscle & Nerve, bind 44, nr. 5, s. 703-9.
https://doi.org/10.1002/mus.22132APA
Gavassini, B. F., Carboni, N.
, Nielsen, J. E., Danielsen, E. R., Thomsen, C., Svenstrup, K., Bello, L., Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C.
, Vissing, J., & Pegoraro, E. (2011).
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
Muscle & Nerve,
44(5), 703-9.
https://doi.org/10.1002/mus.22132Vancouver
Gavassini BF, Carboni N
, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K o.a.
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
Muscle & Nerve. 2011 nov.;44(5):703-9.
https://doi.org/10.1002/mus.22132Author
Gavassini, Bruno F ; Carboni, Nicola ; Nielsen, Jørgen E ; Danielsen, Else R ; Thomsen, Carsten ; Svenstrup, Kirsten ; Bello, Luca ; Maioli, Maria Antonietta ; Marrosu, Giovanni ; Ticca, Anna Filomena ; Mura, Marco ; Marrosu, Maria Giovanna ; Soraru, Gianni ; Angelini, Corrado ; Vissing, John ; Pegoraro, Elena. / Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. I: Muscle & Nerve. 2011 ; Bind 44, Nr. 5. s. 703-9.
Bibtex
@article{c0ec618ccfc54029a29cfdaa42f01fe7,
title = "Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations",
abstract = "In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.",
keywords = "Adolescent, Aged, Alternative Splicing, Base Sequence, Child, Female, Humans, Laminin, Male, Middle Aged, Molecular Sequence Data, Muscular Dystrophies, Limb-Girdle, Mutagenesis, Insertional, Mutation, Phenotype, RNA Splice Sites, Young Adult",
author = "Gavassini, {Bruno F} and Nicola Carboni and Nielsen, {J{\o}rgen E} and Danielsen, {Else R} and Carsten Thomsen and Kirsten Svenstrup and Luca Bello and Maioli, {Maria Antonietta} and Giovanni Marrosu and Ticca, {Anna Filomena} and Marco Mura and Marrosu, {Maria Giovanna} and Gianni Soraru and Corrado Angelini and John Vissing and Elena Pegoraro",
note = "Copyright {\textcopyright} 2011 Wiley Periodicals, Inc.",
year = "2011",
month = nov,
doi = "10.1002/mus.22132",
language = "English",
volume = "44",
pages = "703--9",
journal = "Muscle & Nerve",
issn = "0148-639X",
publisher = "JohnWiley & Sons, Inc.",
number = "5",
}
RIS
TY - JOUR
T1 - Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations
AU - Gavassini, Bruno F
AU - Carboni, Nicola
AU - Nielsen, Jørgen E
AU - Danielsen, Else R
AU - Thomsen, Carsten
AU - Svenstrup, Kirsten
AU - Bello, Luca
AU - Maioli, Maria Antonietta
AU - Marrosu, Giovanni
AU - Ticca, Anna Filomena
AU - Mura, Marco
AU - Marrosu, Maria Giovanna
AU - Soraru, Gianni
AU - Angelini, Corrado
AU - Vissing, John
AU - Pegoraro, Elena
N1 - Copyright © 2011 Wiley Periodicals, Inc.
PY - 2011/11
Y1 - 2011/11
N2 - In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.
AB - In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.
KW - Adolescent
KW - Aged
KW - Alternative Splicing
KW - Base Sequence
KW - Child
KW - Female
KW - Humans
KW - Laminin
KW - Male
KW - Middle Aged
KW - Molecular Sequence Data
KW - Muscular Dystrophies, Limb-Girdle
KW - Mutagenesis, Insertional
KW - Mutation
KW - Phenotype
KW - RNA Splice Sites
KW - Young Adult
U2 - 10.1002/mus.22132
DO - 10.1002/mus.22132
M3 - Journal article
C2 - 21953594
VL - 44
SP - 703
EP - 709
JO - Muscle & Nerve
JF - Muscle & Nerve
SN - 0148-639X
IS - 5
ER -
