Fasciitis secondary to systemic necrotizing vasculitis von Prot-Leurent, C, Martin-Negrier, M -L, Lazaro, E, Delbrel, X, Viallard, J -F

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TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review von Martin-Negrier, M.-L., Sole, G., Jardel, C., Vital, C., Ferrer, X., Vital, A.

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Isolated CNS Sarcoidosis Versus Systemic Sarcoidosis With CNS Involvement: A Same Disease? von Courtin, E., Ouallet, JC, Lazaro, E., Martin-Negrier, M-L., Cohen-Aubart, F., Duffau, P.

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Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON) von Vital, C., Julien, J., Martin-Negrier, M.-L., Lagueny, A., Ferrer, X., Vital, A.

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Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review von Perez, F, Anne, O, Debruxelles, S, Menegon, P, Lambrecq, V, Lacombe, D, Martin-Negrier, M.L, Brochet, B, Goizet, C

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Diagnostic des dystrophies musculaires progressives des ceintures de type 2A ou calpaïnopathies : étude des patients du centre de référence des maladies neuromusculaires de Bordeau... von Perez, F., Vital, A., Martin-Negrier, M.-L., Ferrer, X., Sole, G.

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Mutisme et troubles du comportement aigus révélant un syndrome MELAS von Coomans, H., Barroso, B., Bertandeau, E., Bonnan, M., Dakar, A., Demasles, S., Garraud, S., Krim, E., Martin-Négrier, M.-L.

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Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary appr... von Zenagui, R, Lacourt, D, Juntas-Morales, R, Sole, G, Cances, C, River, F, Renard, D, Walther-Louvier, U, Ferrer-Monasterio, X, Espil, C, Arné-Bes, M, Cintas, P, Uro-Coste, E, Martin Negrier, M, Rigau, V, Bieth, E, Goizet, C, Claustres, M, Koenig, M, Cossee, M

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Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature von Bouillot, S., Martin-Négrier, M.L., Vital, A., Ferrer, X., Lagueny, A., Vincent, D., Coquet, M., Orgogozo, J.M., Bloch, B., Vital, C.

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Paraneoplastic dermatomyositis with glycogen accumulation in muscle von Lagueny, A., Martin-Negrier, M.L., Bredin, A., Berge-Lefranc, J.L., Piraud, M., Vital, A.

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Ontogeny of the striatal neurons expressing neuropeptide genes in the human fetus and neonate von Brana, C., Charron, G., Aubert, I., Carles, D., Martin-Negrier, M. L., Trouette, H., Fournier, M. C., Vital, C., Bloch, B.

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Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux) von Perez, F, Vital, A, Martin-Negrier, M-L, Ferrer, X, Sole, G

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Agonist stimulation provokes dendritic and axonal dopamine D1 receptor redistribution in primary cultures of striatal neurons von MARTIN-NEGRIER, M.-L, CHARRON, G, BLOCH, B

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Increased prevalence of granulovacuolar degeneration in C9orf72 mutation von Riku, Yuichi, Duyckaerts, Charles, Boluda, Susana, Plu, Isabelle, Le Ber, Isabelle, Millecamps, Stéphanie, Salachas, François, Yoshida, Mari, Ando, Takashi, Katsuno, Masahisa, Sobue, Gen, Seilhean, Danielle

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Fatal brain stem encephalitis due to herpes simplex virus type 1 in AIDS von Moulignier, A, Baudrimont, M, Martin-Negrier, M L, Mikol, J, Lapresle, C, Dupont, B

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Concurrent herpes simplex type 1 necrotizing encephalitis, cytomegalovirus ventriculoencephalitis and cerebral lymphoma in an AIDS patient von VITAL, C, MONLUN, E, VITAL, A, MARTIN-NEGRIER, M. L, CALES, V, LEGER, F, LONGY-BOURSIER, M, LE BRAS, M, BLOCH, B

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P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families von Ben Yaou, R., Stojkovic, T., Cerino, M., Duval, F., Juntas-Morales, R., Nelson, I., Beuvin, M., Lacene, E., Sternberg, D., Nectoux, J., Martin-Negrier, M., Bartoli, M., Cossee, M., Leturcq, F., Sole, G., Krahn, M., Romero, N., Eymard, B., Bonne, G.

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P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy von Beuvin, M., Lacène, E., Labasse, C., Brochier, G., Madelaine, A., Ben Yaou, R., Stojkovic, T., Sole, G., Juntas-Morales, R., Martin-Negrier, M., Duval, F., Nelson, I., Nectoux, J., Leturcq, F., Cossée, M., Sternberg, D., Eymard, B., Bonne, G., Evangelista, T., Romero, N.

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Agonist stimulation provokes dendritic and axonal dopamine D 1 receptor redistribution in primary cultures of striatal neurons von Martin-Negrier, M.-L, Charron, G, Bloch, B

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Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases von Lacourt, D., Yauy, K., Walther-Louvier, U., Juntas-Morales, R., Cances, C., Espil, C., Sole, G., Arné-Bes, M., Cintas, P., Uro-coste, E., Negrier, M. Martin, Rigau, V., Bieth, E., Goizet, C., Koenig, M., Rivier, F., Cossée, M.

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