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246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands
Olivé M, Winter L, Fürst DO, et al.
Neuromuscular disorders : NMD, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, et al.
Genes, 2020, 11, 5
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe
Vicente LM, Marti P, Azorin I, et al.
Journal of the neurological sciences, 2020, 414
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Palmio J, Jonson PH, Inoue M, et al.
Neuromuscular disorders : NMD, 2020, 30, 1, p 38
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families
Gonzalez-Mera L, Ravenscroft G, Cabrera-Serrano M, et al.
Neuropathology and applied neurobiology, 2020
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
de Fuenmayor-Fernandez de la Hoz CP, Hernandez-Lain A, Olivé M, et al.
Brain : a journal of neurology, 2019
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study
Sedghi M, Moslemi AR, Olivé M, et al.
Annals of clinical and translational neurology, 2019
1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology : Amsterdam, The Netherlands, 7 December 2018
Udd B, Stenzel W, Oldfors A, et al.
Neuromuscular disorders : NMD, 2019, 29, 6, p 483
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
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Dominguez-Gonzalez C, Hernandez-Lain A, Rivas E, et al.
Orphanet journal of rare diseases, 2019, 14, n1, p 100
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé M, Engvall M, Ravenscroft G, et al.
Nature communications, 2019, 10, 1
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Nilipour Y, Nafissi S, Tjust AE, et al.
European journal of neurology, 2018, 25, 6, p 841
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up
Gómez-Andrés D, Gómez-Andrés D, Diaz-Manera J, et al.
Muscle & Nerve, 2018, 58, 6, p 812
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano M, Mavillard F, Biancalana V, et al.
Neurology, 2018, 91, 4
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability
Rodriguez MA, Del Rio Barquero LM, Ortez CI, et al.
frontiers in aging neuroscience, 2017, 9
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Evila A, Palmio J, Vihola A, et al.
Molecular neurobiology, 2017, 54, 9, p 7212
New aspects of myofibrillar myopathies
Kley RA, Olivé M, Schröder R
Current opinion in neurology, 2016, 29, 5, p 628
Cutaneous Neoplasms in Myotonic Dystrophy Type 1
Marcoval J, Olivé M, Bonfill-Ortí M, et al.
Dermatology (Basel, Switzerland), 2016, 232, 6, p 700
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
Diaz-Manera J, Alejaldre A, Gonzales L, et al.
Neuromuscular disorders : NMD, 2016, 26, 1, p 33
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations
Olivé M, Abdul-Hussein S, Oldfors A, et al.
Human molecular genetics, 2015, 24, 13, p 3638
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
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, et al.
Brain : a journal of neurology, 2014, 137, 12, p 3160
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.
Pfeffer G, Sambuughin N, Olivé M, et al.
Neuromuscular disorders : NMD, 2014, 24, 3, p. 241-244
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
Toro C, Olivé M, Dalakas MC, et al.
BMC neurology, 2013, 13, 29, 14 p.
