Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Authors: Roy, Bhaskar, Peck, Allison, Evangelista, Teresinha, Pfeffer, Gerald, Wang, Leo, Diaz‐Manera, Jordi, Korb, Manisha, Wicklund, Matthew P., Milone, Margherita, Freimer, Miriam, Kushlaf, Hani, Villar‐Quiles, Rocio‐Nur, Stojkovic, Tanya, Needham, Merrilee, Palmio, Johanna, Lloyd, Thomas E., Keung, Benison, Mozaffar, Tahseen, Weihl, Conrad Chris, Kimonis, Virginia

Source: Annals of clinical and translational neurology. 10(5):686-695

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182608533.0x000001&indx=1&recIds=ETOCvdc_100182608533.0x000001

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

Authors: Stojkovic, Tanya, Masingue, Marion, Turmel, Helène, Hezode-Arzel, Marianne, Béhin, Anthony, Leonard-Louis, Sarah, Bassez, Guillaume, Bauché, Stéphanie, Blondy, Patricia, Richard, Pascale, Sternberg, Damien, Eymard, Bruno, Fournier, Emmanuel, Villar-Quiles, Rocío Nur

Source: In Neuromuscular Disorders December 2022 32(11-12):870-878

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

Authors: Villar‐Quiles, Rocio Nur, Sternberg, Damien, Tredez, Grégoire, Beatriz Romero, Norma, Evangelista, Teresinha, Lafôret, Pascal, Cintas, Pascal, Sole, Guilhem, Sacconi, Sabrina, Bendahhou, Said, Franques, Jérôme, Cances, Claude, Noury, JB, Delmont, Emilien, Blondy, Patricia, Perrin, Laurence, Hezode, Marianne, Fournier, Emmanuel, Fontaine, Bertrand, Stojkovic, Tanya, Vicart, Savine

Source: European journal of neurology. 29(8):2398-2411

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100156043928.0x000001&indx=1&recIds=ETOCvdc_100156043928.0x000001

Improving Examination Skills in Neuromuscular Disorders Through an Educational Video.

Authors: Villar‐Quiles, Rocio Nur^1,2 (AUTHOR) rocionur.villarquiles@aphp.fr, Bouaoud, Jebrane³ (AUTHOR), Foy, Jean Philippe³ (AUTHOR), Behin, Anthony¹ (AUTHOR), Masingue, Marion¹ (AUTHOR), Nguyen, Tan Mai³ (AUTHOR), Iniesto, Miguel⁴ (AUTHOR), Stojkovic, Tanya¹ (AUTHOR), Idbaih, Ahmed⁵ (AUTHOR)

Source: Clinical Teacher. Feb2025, Vol. 22 Issue 1, p1-6. 6p.

Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease

Authors: Villar-Quiles, Rocio-Nur, Le, Van Thuy, Leonard-Louis, Sarah, Trang, Nguyen Thi, Huong, Nguyen Thi, Laddada, Lilia, Francou, Bruno, Maisonobe, Thierry, Azzedine, Hamid, Stojkovic, Tanya

Source: In Neuromuscular Disorders August 2021 31(8):756-764

JAG2-related muscular dystrophy: when differential diagnosis matters

Authors: Villar-Quiles, Rocio Nur, Romero, Norma B., Stojkovic, Tanya

Source: M/S. 37(1):40-43

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN628053027&indx=1&recIds=ETOCRN628053027

SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance

Authors: Varone, Ersilia, Pozzer, Diego, Di Modica, Simona, Chernorudskiy, Alexander, Nogara, Leonardo, Baraldo, Martina, Cinquanta, Mario, Fumagalli, Stefano, Villar-Quiles, Rocio Nur, De Simoni, Maria-Grazia, Blaauw, Bert, Ferreiro, Ana, Zito, Ester

Source: In Redox Biology June 2019 24

Confounding clinical presentation and different disease progression in CMT4B1

Authors: Guimarães-Costa, Raquel, Villar-Quiles, Rocio-Nur, Latour, Philippe, Sole, Guilhem, Husson, Isabelle, Lacour, Arnaud, Leonard-Louis, Sarah, Stojkovic, Tanya

Source: NEUROMUSCULAR DISORDERS. 30(7):576-582

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117093270.0x000001&indx=1&recIds=ETOCvdc_100117093270.0x000001

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Authors: Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-´Avila, Marta, Tsui-Fen Chou, Shan Li, Feng Wang, Daw, Jil, Stojkovic, Tanya, Villar-Quiles, Rocio, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Masahisa Katsuno, Noda, Seiya, Chihiro Ito, Mieko Otsuka, Nahir, Sruthi, Manousakis, Georgios

Source: Neurology: Genetics; Oct2023, Vol. 9 Issue 5, p1-12, 12p

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

Authors: Stojkovic, Tanya, Masingue, Marion, Métay, Corinne, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Rialland, Laetitia, Drunat, Séverine, Gartioux, Corine, Nelson, Isabelle, Allamand, Valérie, Bonne, Gisèle, Villar-Quiles, Rocio Nur

Source: Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 1, p125-133, 9p

Dystrophie musculaire liée à des mutations du gène JAG2: L'importance du diagnostic différentiel. (French)

Alternate Title: JAG2-related muscular dystrophy: When differential diagnosis matters. (English)

Authors: Nur Villar-Quiles, Rocio, Romero, Norma B, Tanya, Stojkovic

Source: Médecine Sciences; 2021 Special Issue, Vol. 37, p40-43, 4p

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Authors: Villar-Quiles, Rocio N., von der Hagen, Maja, Métay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lütschg, Jürg, Malfatti, Edoardo, Mayer, Michèle, Merlini, Luciano

Source: Neurology; 9/15/2020, Vol. 95 Issue 11, pe1512-e1527, 16p

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Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.

Authors: Meunier, Justine¹ (AUTHOR) justine.meunier@etu.u-paris.fr, Villar-Quiles, Rocio-Nur^1,2 (AUTHOR) rocionur.villarquiles@aphp.fr, Duband-Goulet, Isabelle¹ (AUTHOR) isabelle.duband-goulet@univ-paris-diderot.fr, Ferreiro, Ana^1,2 (AUTHOR) isabelle.duband-goulet@univ-paris-diderot.fr

Source: International Journal of Molecular Sciences. Jun2021, Vol. 22 Issue 11, p6039. 1p.

Subject Terms: *NEUROMUSCULAR diseases, *CONGENITAL disorders, *MOTOR neuron diseases, *SPINAL muscular atrophy, *CELL cycle regulation, *NEMALINE myopathy

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