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Author/Creator Lacène, Emmanuelle

1. A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers. Issue 8 (30th June 2020)

Authors:
Evangelista, Teresinha; Lornage, Xavière; Carlier, Pierre G; Bassez, Guillaume; Brochier, Guy; Chanut, Anais; Lacène, Emmanuelle; Bui, Mai-Thao; Metay, Corinne; Oppermann, Ursula; Böhm, Johann; Laporte, Jocelyn; Romero, Norma B
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 79:Issue 8(2020)
Page Start:
908
Record Type:
Journal Article
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2. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy. Issue 9 (29th September 2020)

Authors:
Géraud, Justine; Dieterich, Klaus; Rendu, John; Uro Coste, Emmanuelle; Dobrzynski, Murielle; Marcorelle, Pascale; Ioos, Christine; Romero, Norma Beatriz; Baudou, Eloise; Brocard, Julie; Coville, Anne-Cécile; Fauré, Julien; Koenig, Michel; Juntas Morales, Raul; Lacène, Emmanuelle; Madelaine, Angél...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 9(2021)
Page Start:
602
Record Type:
Journal Article
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3. Congenital Nemaline Myopathy with Dense Protein Masses. Issue 4 (9th February 2022)

Authors:
Bevilacqua, Jorge A; Malfatti, Edoardo; Labasse, Clémence; Brochier, Guy; Madelaine, Angeline; Lacène, Emmanuelle; Doray, Bérénice; Laforêt, Pascal; Eymard, Bruno; Rendu, John; Romero, Norma B
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 81:Issue 4(2022)
Page Start:
304
Record Type:
Journal Article
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4. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022)

Authors:
Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F...
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
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5. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022)

Authors:
Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F...
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
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Record Type:
Journal Article
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6. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (February 2022)

Authors:
Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F...
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
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Record Type:
Journal Article
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7. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. Issue 12 (25th October 2018)

Authors:
Ávila-Polo, Rainiero; Malfatti, Edoardo; Lornage, Xavière; Cheraud, Chrystel; Nelson, Isabelle; Nectoux, Juliette; Böhm, Johann; Schneider, Raphaël; Hedberg-Oldfors, Carola; Eymard, Bruno; Monges, Soledad; Lubieniecki, Fabiana; Brochier, Guy; Thao Bui, Mai; Madelaine, Angeline; Labasse, Clémence;...
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 77:Issue 12(2018)
Page Start:
1101
Record Type:
Journal Article
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