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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
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
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene
Svahn J, Laforêt P, Vial C, et al.
Neuromuscular disorders : NMD, 2019, 29, 7, p 497
Un cas de myopathie myofibrilliaire infantile dû à une mutation dans le gène FLNC
Janin A, Manel V, Millat G, et al.
Les Cahiers de Myologie, 2018, 17, p 15
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells
Janin A, Bauer D, Ratti F, et al.
Scientific Reports, 2018, 8, 1
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy
Janin A, N'guyen K, Habib G, et al.
Clinical genetics, 2017, 92, 6, p 616
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché S, Vellieux G, Sternberg D, et al.
Journal of neurology, 2017, 264, 8, p 1791
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou R, Hubert A, Nelson I, et al.
Neurology. Genetics, 2017, 3, 6
Myosite focale : une maladie méconnue : [Focal myositis: An unknown disease]
Gallay L, Streichenberger N, Benveniste O, et al.
La Revue de medecine interne, 2017, 38, 10, p 679
Myopathie à surcharge lipidique secondaire à une nouvelle mutation du gène PNPLA2 : [Les cahiers de Myologie]
Jousserand G, Streichenberger N, Petiot P
Les Cahiers de Myologie, 2016, Vol.32, Hors série n°2, p.10-11
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease
Gallay L, Petiot P, Durieu I, et al.
Neuromuscular disorders : NMD, 2016, 26, 11, p 801
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease
Behin A, Acquaviva-Bourdain C, Souvannanorath S, et al.
Revue neurologique, 2016, 172, 3, p 231
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.
Svahn J, Streichenberger N, Benveniste O, et al.
Neuromuscular disorders : NMD, 2015, Epub, p. 1-4
Maladies à corps de polyglucan : formes néonatales de maladie d'Andersen : Cas cliniques
Streichenberger N, Mezin P, Clamadieu C, et al.
Les Cahiers de Myologie, 2014, 11, p. 14-15
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, et al.
Journal of neuropathology and experimental neurology, 2013, 72, 9, p 833
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Auré K, Dubourg O, Jardel C, et al.
Neurology, 2013, 81, 21, p. 1810-1818
Les myopathies nécrosantes auto-immunes
Petiot P, Choumert A, Hamelin M, et al.
Revue neurologique (Paris), 2013, 169, 8-9, p. 650-655
Camptocormia as a clinical manifestation of polymyositis/systemic sclerosis overlap myositis associated with anti-Ku
Zenone T, Streichenberger N, Puget M
Rheumatology international, 2013, 33, 9, p. 2411-2415
Ultra-structural time-course study in the C. elegans model for Duchenne muscular dystrophy highlights a crucial role for sarcomere-anchoring structures and sarcolemma integrity in the earliest steps of the muscle degeneration process.
Brouilly N, Lecroisey C, Martin E, et al.
Human molecular genetics, 2012, Epub, p. 1-18
Analyse structurelle de la plaque motrice par études immunocytochimiques de la biopsie musculaire
Streichenberger N, Simonet T, Baas D, et al.
Congrès : Xèmes Journées Annuelles de la Société française de Myologie (SFM) (14-16 novembre 2012; Grenoble (France))
2012, p. 8
Macro-CPK de type 1 et myosite à inclusions
Zenone T, Streichenberger N
Revue de médecine interne (La), 2010, 31, 3, p. 247
Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d’experts sous l’égide de la Société française de neuropathologie, de la Société française de myologie et de l’Association française contre les myopathies : Management of Muscle and Nerve Biopsies: Expert Guidelines From Two French Professional Societies, Société française De Myologie Et De l'Association française Contre Les Myopathies
Uro-Coste E, Fernandez C, Authier FJ, et al.
Société française de myologie
Revue neurologique (Paris), 2010, 166, 5, p 477
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
Krahn M, Wein N, Bartoli M, et al.
Science translational medicine, 2010, 2, 50
