C. Jiménez-Mallebrera
发表
Miroslav P. Milev,
Qingchuan Zhao,
M. Sacher,
2019,
Traffic.
Susan C. Brown,
F. Muntoni,
T. Voit,
2003,
Human molecular genetics.
C. Bönnemann,
D. Cuadras,
C. Ortez,
2021,
Neurology.
M. Couce,
L. Palacios,
C. Jiménez-Mallebrera,
2017,
Neuromuscular Disorders.
Miguel Ángel Martín,
C. Jiménez-Mallebrera,
A. Hernández-Laín,
2021,
Molecular genetics and metabolism reports.
A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies
pdf
Josep M. Porta,
Adrián Bazaga,
Mònica Roldán,
2019,
Appl. Soft Comput..
J. Samitier,
J. Montero,
A. Lagunas,
2022,
Frontiers in Bioengineering and Biotechnology.
A. Aloysius,
M. Main,
E. Mercuri,
2009,
Neurology.
Susan C. Brown,
K. Bushby,
F. Muntoni,
2006,
Neuromuscular Disorders.
Hanns Lochmüller,
H. Lochmüller,
C. Ortez,
2016,
Journal of Neurology.
E. Mercuri,
F. Muntoni,
M. Kinali,
2007,
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
F. Muntoni,
S. Kalko,
C. Ortez,
2013,
PloS one.
Susan C. Brown,
F. Muntoni,
K. Campbell,
2009,
Brain pathology.
J. Hoenicka,
R. Carlier,
H. Lochmüller,
2019,
American journal of medical genetics. Part A.
L. M. Del Río Barquero,
C. Ortez,
M. Ramón-Krauel,
2017,
Front. Aging Neurosci..
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2020,
Scientific Reports.
Susan C. Brown,
F. Muntoni,
C. Sewry,
2003,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
C. Bönnemann,
A. Foley,
C. Jiménez-Mallebrera,
2013
.
I. Ferrer,
A. Gómez-Foix,
J. Colomer,
2012,
Journal of neuropathology and experimental neurology.
F. Muntoni,
C. Sewry,
C. Jiménez-Mallebrera,
2008,
Current opinion in neurology.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2016,
PloS one.
M. Baiget,
E. Rivas,
C. Paradas,
2012,
Orphanet Journal of Rare Diseases.
Miroslav P. Milev,
Qingchuan Zhao,
M. Sacher,
2019,
Traffic.
C. Jiménez-Mallebrera,
K. Shephard,
A. Cook,
1996
.
F. Muntoni,
C. Sewry,
S. Torelli,
2004,
Neuropathology and applied neurobiology.
C. Ortez,
Miroslav P. Milev,
M. Sacher,
2019,
Scientific Reports.
C. Ortez,
I. Illa,
E. Gallardo,
2021,
Frontiers in Neurology.
Beryl B. Cummings,
Jamie L. Marshall,
D. MacArthur,
2019,
JCI insight.
P. Loza-Álvarez,
C. Jiménez-Mallebrera,
Arístides López-Márquez,
2022,
International journal of molecular sciences.
K. Davies,
C. Jiménez-Mallebrera,
Y. Edwards,
2003,
Mammalian Genome.
Susan C. Brown,
F. Muntoni,
Y. Shapira,
2006,
Annals of neurology.
F. Muntoni,
M. Zatz,
N. Romero,
2005,
Neuromuscular Disorders.
E. Ruiz-Pesini,
C. Ortez,
R. Artuch,
2022,
International journal of molecular sciences.
Susan C. Brown,
F. Muntoni,
C. Sewry,
2008,
Archives of neurology.
P. Navas,
E. Ruiz-Pesini,
E. Trevisson,
2016,
Mitochondrion.
Robert W. Taylor,
A. Ballabio,
E. Bertini,
2020,
Journal of inherited metabolic disease.
E. Ruiz-Pesini,
M. Bayona-Bafaluy,
Nuria Garrido-Pérez,
2020,
International journal of molecular sciences.
I. Ferrer,
M. Rolland,
J. Colomer,
2009,
Histopathology.
J. Arenas,
Miguel Ángel Martín,
E. Rivas,
2019,
Orphanet Journal of Rare Diseases.
S. Kalko,
K. Engelstad,
C. Paradas,
2019,
Annals of neurology.
C. Ortez,
C. Jiménez-Mallebrera,
C. Jou,
2016,
Neuromuscular Disorders.
S. Kalko,
C. Ortez,
E. Gallardo,
2015,
PloS one.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2020,
Scientific Reports.
L. de Meirleir,
S. Kalko,
E. Ruiz-Pesini,
2014,
BMC Genomics.
D. Cuadras,
C. Ortez,
S. César,
2020,
Pediatric neurology.
K. Bushby,
F. Muntoni,
Hanns Lochmüller,
2009,
Brain : a journal of neurology.
C. Jiménez-Mallebrera,
2022,
Annals of clinical and translational neurology.
C. Ortez,
Susanna Balcells,
D. Grinberg,
2022,
International journal of molecular sciences.
Cecilia Jimenez-Mallebrera,
Carmen Badosa,
D. Cuadras,
2020,
Frontiers in Neurology.
F. Muntoni,
A. Aloysius,
F. Muntoni,
2008,
Journal of Neuroimmunology.
Robert W. Taylor,
N. Lax,
P. Bonnen,
2018,
EMBO molecular medicine.
R. Finkel,
K. Bushby,
F. Muntoni,
2008,
Human mutation.
Susan C. Brown,
E. Mercuri,
K. Bushby,
2007,
Brain : a journal of neurology.
F. Muntoni,
C. Sewry,
S. Torelli,
2012,
Neuromuscular Disorders.
Susan C. Brown,
F. Muntoni,
C. Sewry,
2005,
Cellular and Molecular Life Sciences CMLS.
M. Baiget,
S. Pascual-Pascual,
J. Juan-Mateu,
2013,
PloS one.
Francesco Muntoni,
Kate Bushby,
Robert B. Weiss,
2004
.
Francesco Muntoni,
Sc Brown,
Caroline A. Sewry,
2004
.
Francesco Muntoni,
Maria Kinali,
Cecilia Jimenez-Mallebrera,
2008
.
Robert W. Taylor,
F. Tort,
L. Waddell,
2019,
Journal of inherited metabolic disease.
D. Cuadras,
C. Ortez,
J. Colomer,
2020,
Neuromuscular Disorders.
Martin Brockington,
Francesco Muntoni,
Sc Brown,
2004
.
S. Kalko,
J. Colomer,
C. Jiménez-Mallebrera,
2016,
Neuromuscular Disorders.
J. Weis,
Jean-Jacques Martin,
B. De Paepe,
2016,
Laboratory Investigation.
E. Ruiz-Pesini,
R. Artuch,
M. Pineda,
2015,
Mitochondrion.
C. Lerin,
A. Gómez-Foix,
X. Palomer,
2012,
PloS one.
J. Allsop,
E. Mercuri,
F. Muntoni,
2004,
Archives of neurology.
M D Ugarte,
A Adin,
P. Navas,
2016,
Scientific Reports.
Robert W. Taylor,
J. Armstrong,
R. Artuch,
2015,
Front. Genet..
Robert W. Taylor,
J. Armstrong,
R. Artuch,
2015,
Front. Genet..
C. Ortez,
A. López de Munain,
S. Pascual-Pascual,
2023,
Journal of Medical Genetics.
D. Cuadras,
C. Ortez,
A. Arzimanoglou,
2020,
Epilepsia.
E. Ruiz-Pesini,
R. Artuch,
J. Montoya,
2021,
Clinical chemistry.
F. Tort,
P. Navas,
E. Ruiz-Pesini,
2019,
Journal of clinical medicine.
M. Baiget,
J. Juan-Mateu,
J. Colomer,
2013,
Neuromuscular Disorders.
A. Cnaan,
M. Baiget,
C. Spurney,
2013
.
C. Ortez,
D. Alcolea,
C. Jiménez-Mallebrera,
2023,
Journal of neuromuscular diseases.
E. Malfatti,
R. Carlier,
P. Laforêt,
2020,
Neuromuscular Disorders.
E. Mercuri,
F. Muntoni,
E. Bertini,
2007,
Neuromuscular Disorders.
D. Cuadras,
C. Ortez,
L. Matalonga,
2023,
International journal of molecular sciences.
P. Navas,
J. Armstrong,
A. Ormazabal,
2014,
BMC Pediatrics.
B. Giusti,
E. Mercuri,
F. Muntoni,
2005,
Human Genetics.
Susan C. Brown,
K. Bushby,
F. Muntoni,
2004,
Prenatal diagnosis.
D. Cuadras,
C. Ortez,
J. Colomer,
2020,
Pediatric neurology.