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microscopie électroniqueSynonyme(s)ME ;MET ;microscopie électronique à transmission ;electron microscopy ;MEB ;SEM scanning electron microscopy |
Documents disponibles dans cette catégorie (781)
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Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization
Kakkar A, Sharma MC, Nambirajan A, et al.
Ultrastructural pathology, 2018
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
Bartsakoulia M, Pyle A, Troncosco D, et al.
Human molecular genetics, 2018, 27, 7, p 1186
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3
Schänzer A, Rupp S, Graf S, et al.
Molecular genetics and metabolism, 2018, 123, 3, p 388
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.
Maselli RA, Vázquez J, Schrumpf L, et al.
Molecular genetics & genomic medicine, 2018, 6, 3, p 434
Nuclear Lamins: Thin Filaments with Major Functions
de Leeuw R, Gruenbaum Y, Medalia O
Trends in cell biology, 2018, 28, 1, p 34
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission
Maselli RA, Arredondo J, Vázquez J, et al.
American Journal of Medical Genetics Part A, 2017, 173, 8, p 2240
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
Mori M, Bailey LA, Estrada J, et al.
JIMD reports, 2017, 31, p 79
Optical Mapping Approaches on Muscleblind-Like Compound Knockout Mice for Understanding Mechanistic Insights Into Ventricular Arrhythmias in Myotonic Dystrophy
Chou CC, Chang PC, Wei YC, et al.
Journal of the American Heart Association, 2017, 6, 4
Congenital myopathy associated with the triadin knockout syndrome
Engel AG, Redhage KR, Tester DJ, et al.
Neurology, 2017, 88, 12, p 1153
Collagénopathies musculaires : des perturbations superposables au niveau du muscle et du tendon
Urtizberea JA
2016
Sur la technique des biopsies musculaire (III). L'apport de la microscopie électronique, hier, et à l'heure de la génétique moléculaire : Un survol historique.
Fardeau M, Rouche A, Vassilopoulos S, et al.
Les Cahiers de Myologie, 2016, 32, HS 2, p 6
Les inhibiteurs de l’acétylcholine-estérase durablement efficaces dans la myopathie à bâtonnets ? à propos d’une observation.
Urtizberea JA
2016
Myopathies des ceintures : le séquençage à haut débit a permis d’identifier un nouveau gène, le gène POPCD1
Urtizberea JA
2016
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis
Preusse C, Allenbach Y, Hoffmann O, et al.
Acta neuropathologica communications, 2016, 4, 1
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Auer-Grumbach M, Toegel S, Schabhüttl M, et al.
American journal of human genetics, 2016, 99, 3, p 607
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Sevilla T, Sevilla T, Lupo V, et al.
Brain : a journal of neurology, 2016, 139, p 62
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
Sardone F, Traina F, Bondi A, et al.
frontiers in aging neuroscience, 2016, 8, 131
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans
Shamseldin HE, Smith LL, Kentab A, et al.
Human genetics, 2016, 135, 1, p 21
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitor
Natera-de Benito D, Nascimento A, Abicht A, et al.
Journal of neurology, 2016, 263, 3, p 517
Dystrophin-Deficient Cardiomyopathy
Kamdar F, Garry DJ
Journal of the American College of Cardiology, 2016, 67, 21, p 2533
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy
Evans JM, Cox ML, Huska J, et al.
Mammalian genome : official journal of the International Mammalian Genome Society, 2016, 27, 9-10, p 495
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
van der Ploeg A, Carlier PG, Carlier RY, et al.
Molecular genetics and metabolism, 2016, 119, 1-2, p 115
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
Akman HO, Aykit Y, Amuk OC, et al.
Neuromuscular disorders : NMD, 2016, 26, 1, p 16
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Seferian AM, Malfatti E, Bosson C, et al.
Neuromuscular disorders : NMD, 2016, 26, 10, p 712
