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Author/Creator Romero, Norma B

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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Available online (eLD content is only available in our Reading Rooms) ↗

2. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. Issue 10 (14th May 2014)

Authors:
Romero, Norma B; Xie, Ting; Malfatti, Edoardo; Schaeffer, Ursula; Böhm, Johann; Wu, Bin; Xu, Fengping; Boucebci, Samy; Mathis, Stéphane; Neau, Jean-Philippe; Monnier, Nicole; Fardeau, Michel; Laporte, Jocelyn
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 85:Issue 10(2014)
Page Start:
1149
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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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Available online (eLD content is only available in our Reading Rooms) ↗

4. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗