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Year Number of Results
2013 1
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2023 3
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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: souvannanorath s. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Damy T, Zaroui A, de Tournemire M, Kharoubi M, Gounot R, Galat A, Guendouz S, Funalot B, Itti E, Roulin L, Audard V, Fanen P, Leroy V, Poulot E, Belhadj K, Mallet S, Deep Singh Chadah G, Planté-Bordeneuve V, Gendre T, Chevalier X, Guignard S, Bequignon E, Bartier S, Folliguet T, Lemonier F, Audureau E, Tixier D, Canoui-Poitrine F, Lefaucheur JP, Souvannanorath S, Authier FJ, Maupou S, Hittinger L, Molinier-Frenkel V, David JP, Broussier A, Oghina S, Teiger E. Damy T, et al. Among authors: souvannanorath s. Arch Cardiovasc Dis. 2023 Oct;116(10):433-446. doi: 10.1016/j.acvd.2023.07.003. Epub 2023 Aug 18. Arch Cardiovasc Dis. 2023. PMID: 37640624
Describing mode of death in three major cardiac amyloidosis subtypes to improve management and survival.
Kharoubi M, Bodez D, Bézard M, Zaroui A, Galat A, Guendouz S, Gendre T, Hittinger L, Attias D, Mohty D, Bergoend E, Itti E, Lebras F, Hamon D, Poullot E, Molinier-Frenkel V, Lellouche N, Deux JF, Funalot B, Fannen P, Oghina S, Arrouasse R, Lecorvoisier P, Souvannanorath S, Amiot A, Teiger E, Bougouin W, Damy T. Kharoubi M, et al. Among authors: souvannanorath s. Amyloid. 2022 Jun;29(2):79-91. doi: 10.1080/13506129.2021.2013193. Epub 2022 Feb 4. Amyloid. 2022. PMID: 35114877
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S. Pisella LI, et al. Among authors: souvannanorath s. Orphanet J Rare Dis. 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y. Orphanet J Rare Dis. 2021. PMID: 34702344 Free PMC article.
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Piarroux J, Dimopoulou E, Taieb G, Souvannanorath S, Roze E, Lion-François L, Spitz MA, Broussolle E, Laurencin C, Chanson JB, Belleville-Goffeney J, François-Heude MC, Meyer P, Khalil M, Dereure M, Doummar D, Chevassus H, Apartis E, Roubertie A. Piarroux J, et al. Among authors: souvannanorath s. Tremor Other Hyperkinet Mov (N Y). 2023 Dec 20;13:46. doi: 10.5334/tohm.803. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 38145278 Free PMC article.
13 results