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Author/Creator Brochier, Guy

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. A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Issue 2 (3rd June 2020)

Authors:
Echaniz‐Laguna, Andoni; Lornage, Xavière; Laforêt, Pascal; Orngreen, Mette C.; Edelweiss, Evelina; Brochier, Guy; Bui, Mai T.; Silva‐Rojas, Roberto; Birck, Catherine; Lannes, Béatrice; Romero, Norma B.; Vissing, John; Laporte, Jocelyn; Böhm, Johann
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
274
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. Endplate denervation correlates with Nogo‐A muscle expression in amyotrophic lateral sclerosis patients. (16th February 2015)

Authors:
Bruneteau, Gaëlle; Bauché, Stéphanie; Gonzalez de Aguilar, Jose Luis; Brochier, Guy; Mandjee, Nathalie; Tanguy, Marie‐Laure; Hussain, Ghulam; Behin, Anthony; Khiami, Frédéric; Sariali, Elhadi; Hell‐Remy, Caroline; Salachas, François; Pradat, Pierre‐François; Lacomblez, Lucette; Nicole, Sophie; Fo...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Number 4(2015:Apr.)
Page Start:
362
Record Type:
Journal Article
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5. 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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6. NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. Issue 4 (7th March 2021)

Authors:
Bouman, Karlijn; Küsters, Benno; De Winter, Josine M; Gillet, Cynthia; Van Kleef, Esmee S B; Eshuis, Lilian; Brochier, Guy; Madelaine, Angeline; Labasse, Clémence; Boulogne, Claire; Van Engelen, Baziel G M; Ottenheijm, Coen A C; Romero, Norma B; Voermans, Nicol C; Malfatti, Edoardo
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 80:Issue 4(2021)
Page Start:
366
Record Type:
Journal Article
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7. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. Issue 9 (16th October 2018)

Authors:
Böhm, Johann; Malfatti, Edoardo; Oates, Emily; Jones, Kristi; Brochier, Guy; Boland, Anne; Deleuze, Jean-François; Romero, Norma Beatriz; Laporte, Jocelyn
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 9(2019)
Page Start:
617
Record Type:
Journal Article
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