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Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
Cortes-Vicente E, Alvarez-Velasco R, Segovia S, et al.
Neurology, 2020, 94, 11
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models
Bargiela A, Sabater-Arcis M, Espinosa-Espinosa J, et al.
Proceedings of the national Academy of sciences of the United States of America, 2019
Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study
Labayru G, Aliri J, Zulaica M, et al.
Journal of neuropsychology, 2019
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy
Selvaraj S, Dhoke NR, Kiley J, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2019
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez A, Alonso-Jimenez A, Kroon RHMJM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019, 90, 5, p 576
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis
Emparanza JI, Emparanza JI, Lopez de Munain A, et al.
Muscle & Nerve, 2018, 58, 4, p 517
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?
Labayru G, Labayru G, Arenzana I, et al.
PLoS ONE, 2018, 13, 9
Dominant LGMD2A: alternative diagnosis or hidden digenism?
Saenz A, Lopez de Munain A
Brain : a journal of neurology, 2017, 140, 2, p e7
Natural history of LGMD2A for delineating outcome measures in clinical trials
Richard I, Hogrel JY, Stockholm D, et al.
Annals of clinical and translational neurology, 2016, 3, 4, p 248
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Freyermuth F, Rau F, Kokunai Y, et al.
Nature communications, 2016, 7
Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation
Fernández-Torrón R, Garcia-Puga M, Emparanza JI, et al.
Neurology, 2016, 87, 12, p 1250
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
Gutierrez-Rivas E, Bautista J, Vilchez JJ, et al.
Neuromuscular disorders : NMD, 2015, 25, 7, p 548
Dysregulation of calcium homeostasis in muscular dystrophies
Vallejo Illarramendi A, Toral-Ojeda I, Aldanondo G, et al.
Expert reviews in molecular medicine, 2014, 16
Entire CAPN3 gene deletion in a patient with limb‐girdle muscular dystrophy type 2A
Jaka O, Azpitarte M, Paisán-Ruiz C, et al.
Muscle & Nerve, 2014, 50, 3, p 448
C3KO mouse expression analysis : downregulation of the muscular dystrophy Ky protein and alterations in muscle aging
Jaka O, Kramerova I, Azpitarte M, et al.
Neurogenetics, 2012, 13, 4, p. 347-357
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
Fugier C, Klein AF, Hammer C, et al.
Nature medicine, 2011, 17, 6, p. 720-726
Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing
Dhaenens CM, Tran H, Frandemiche ML, et al.
Biochimica et biophysica acta, 2011, 1812, 7, p. 732-742
Eosinophilic infiltration related to CAPN3 mutations : a pathophysiological component of primary calpainopathy ?
Krahn M, Goicoechea M, Hanish F, et al.
Clinical genetics, 2011, 80, 4, p. 398-402
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1) : CTG repeats, cognition and personality in DM1
Sistiaga A, Urreta I, Jodar M, et al.
Psychological medicine, 2010, 40, 3, p. 487-495
Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect. Genotype-cognitive phenotype correlation in FSHD
Sistiaga A, Camano P, Otaegui D, et al.
Genes, brain and behavior, 2009, 8, 1, p. 53-59
Histoire naturelle des Calpaïnopathies : résultats préliminaires d'une étude prospective de suivi sur 2 ans : Communication lors des VIIes Journées annuelles de la Société Française de Myologie 29-31 octobre 2009 Hendaye, France
Payan C, Fougerousse F, Doppler V, et al.
2009, p 39
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
Stojkovic T, Hammouda EH, Richard P, et al.
Neuromuscular disorders : NMD, 2009, 19, 5, p 316
CAPN3 mutations in patients with idiopathic eosinophilic myositis
Krahn M, Goicoechea M, Pêcheux C, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 181
Clinical, pathological, and genetic correlations in IBMPDF patients with a mutation in valosin containing protein (VCP gene)
Stojkovic T, Hammouda EH, Richard P, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 266
