Articles with public access mandates - Edoardo MalfattiLearn more
Not available anywhere: 12
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
X Lornage, E Malfatti, C Chéraud, R Schneider, V Biancalana, JM Cuisset, ...
Annals of Neurology 81 (3), 467-473, 2017
Mandates: National Institute of Health and Medical Research, France
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
J Böhm, E Malfatti, E Oates, K Jones, G Brochier, A Boland, JF Deleuze, ...
Journal of Medical Genetics 56 (9), 617-621, 2019
Mandates: National Institute of Health and Medical Research, France, Agence Nationale …
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency
E Malfatti, N Birouk, NB Romero, M Piraud, FM Petit, JY Hogrel, P Laforêt
Journal of the neurological sciences 316 (1-2), 173-177, 2012
Mandates: National Institute of Health and Medical Research, France
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
E Malfatti, S Monges, VL Lehtokari, U Schaeffer, OA Neto, K Kiiski, ...
European journal of medical genetics 58 (10), 556-561, 2015
Mandates: National Institute of Health and Medical Research, France
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
S Quijano-Roy, J Haberlova, C Castiglioni, J Vissing, F Munell, F Rivier, ...
Journal of Neurology, 1-16, 2022
Mandates: Government of Spain
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease
E Malfatti, T Catchpool, S Nouioua, H Sihem, E Fournier, RY Carlier, ...
Neuropathology and Applied Neurobiology 48 (1), e12743, 2022
Mandates: National Health and Medical Research Council, Australia
NEM6, KBTBD13-related congenital myopathy: myopathological analysis in 18 Dutch patients reveals ring rods fibers, cores, nuclear clumps, and granulo-filamentous protein material
K Bouman, B Küsters, JM De Winter, C Gillet, ESB Van Kleef, L Eshuis, ...
Journal of Neuropathology & Experimental Neurology 80 (4), 366-376, 2021
Mandates: US National Institutes of Health, Agence Nationale de la Recherche
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy
E Malfatti, M Chaves, R Bellance, MT Viou, E Sarrazin, M Fardeau, ...
Muscle & Nerve 52 (5), 895-899, 2015
Mandates: National Institute of Health and Medical Research, France
Discordant manifestations in Italian brothers with GNE myopathy
MT Dotti, A Malandrini, X Lornage, A Mignarri, TA Cantisani, J Bohm, ...
Journal of the Neurological Sciences 386, 1-3, 2018
Mandates: National Institute of Health and Medical Research, France
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
L vanden Brande, S Bauché, L Pérez‐Guàrdia, D Sternberg, AM Seferian, ...
Neuropathology and Applied Neurobiology 50 (1), e12952, 2024
Mandates: National Institute of Health and Medical Research, France, Agence Nationale …
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14
G Severa, A Pennisi, C Barnerias, C Fiorillo, M Scala, V Taglietti, ...
Neuromuscular Disorders 33 (10), 817-821, 2023
Mandates: Agence Nationale de la Recherche
Victor (iou)’s myologists: snapshots of a legacy
G Ravenscroft, E Malfatti
Neuromuscular Disorders 31 (10), 1096-1099, 2021
Mandates: National Institute of Health and Medical Research, France
Available somewhere: 71
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ...
The Journal of clinical investigation 124 (11), 4693-4708, 2014
Mandates: US National Institutes of Health, National Health and Medical Research …
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression
G Bruneteau, T Simonet, S Bauché, N Mandjee, E Malfatti, E Girard, ...
Brain 136 (8), 2359-2368, 2013
Mandates: National Institute of Health and Medical Research, France
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ...
Acta neuropathologica 133, 517-533, 2017
Mandates: Swiss National Science Foundation, National Institute of Health and Medical …
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy
J Böhm, M Bulla, JE Urquhart, E Malfatti, SG Williams, J O'Sullivan, ...
Human mutation 38 (4), 426-438, 2017
Mandates: Swiss National Science Foundation, National Institute of Health and Medical …
A new muscle glycogen storage disease associated with glycogenin‐1 deficiency
E Malfatti, J Nilsson, C Hedberg‐Oldfors, A Hernandez‐Lain, F Michel, ...
Annals of neurology 76 (6), 891-898, 2014
Mandates: US National Institutes of Health, Swedish Research Council
A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy
E Malfatti, J Böhm, E Lacène, M Beuvin, G Brochier, NB Romero, ...
Journal of Neuromuscular Diseases 2 (3), 219-227, 2015
Mandates: National Institute of Health and Medical Research, France
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
J Böhm, V Biancalana, E Malfatti, N Dondaine, C Koch, N Vasli, W Kress, ...
Brain 137 (12), 3160-3170, 2014
Mandates: National Institute of Health and Medical Research, France
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
E Malfatti, VL Lehtokari, J Böhm, JM De Winter, U Schäffer, B Estournet, ...
Acta neuropathologica communications 2, 1-14, 2014
Mandates: National Institute of Health and Medical Research, France
Publication and funding information is determined automatically by a computer program