329 related articles for article (PubMed ID: 31159885)
1. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio M; Dogan C; Daidj F; Eymard B; Puymirat J; Mathieu J; Gagnon C; Katsahian S; ; Hamroun D; Bassez G
Orphanet J Rare Dis; 2019 Jun; 14(1):122. PubMed ID: 31159885
[TBL] [Abstract][Full Text] [Related]
2. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
Hilbert JE; Kissel JT; Luebbe EA; Martens WB; McDermott MP; Sanders DB; Tawil R; Thornton CA; Moxley RT;
Contemp Clin Trials; 2012 Mar; 33(2):302-11. PubMed ID: 22155025
[TBL] [Abstract][Full Text] [Related]
3. Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.
De Antonio M; Dogan C; Hamroun D; Mati M; Zerrouki S; Eymard B; Katsahian S; Bassez G;
Rev Neurol (Paris); 2016 Oct; 172(10):572-580. PubMed ID: 27665240
[TBL] [Abstract][Full Text] [Related]
4. Characteristics of myotonic dystrophy patients in the national registry of Japan.
Sugimoto M; Kuru S; Takada H; Horie R; Yamauchi K; Kubota T; Matsumura T; Nakamura H; Kimura E; Takahashi MP
J Neurol Sci; 2022 Jan; 432():120080. PubMed ID: 34923335
[TBL] [Abstract][Full Text] [Related]
5. The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders.
Parker S
Nephrol Dial Transplant; 2014 Sep; 29 Suppl 4():iv9-14. PubMed ID: 25165190
[TBL] [Abstract][Full Text] [Related]
6. The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.
Ambrosini A; Calabrese D; Avato FM; Catania F; Cavaletti G; Pera MC; Toscano A; Vita G; Monaco L; Pareyson D
Orphanet J Rare Dis; 2018 Oct; 13(1):176. PubMed ID: 30286784
[TBL] [Abstract][Full Text] [Related]
7. A model for the European platform for rare disease registries.
Vittozzi L; Gainotti S; Mollo E; Donati C; Taruscio D
Public Health Genomics; 2013; 16(6):299-304. PubMed ID: 24503590
[TBL] [Abstract][Full Text] [Related]
8. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.
Bettio C; Salsi V; Orsini M; Calanchi E; Magnotta L; Gagliardelli L; Kinoshita J; Bergamaschi S; Tupler R
Orphanet J Rare Dis; 2021 Nov; 16(1):470. PubMed ID: 34736505
[TBL] [Abstract][Full Text] [Related]
9. Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2.
Wenninger S; Stahl K; Montagnese F; Schoser B
Eur Neurol; 2020; 83(5):523-533. PubMed ID: 33120389
[TBL] [Abstract][Full Text] [Related]
10. Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.
Shimizu R; Ogata K; Tamaura A; Kimura E; Ohata M; Takeshita E; Nakamura H; Takeda S; Komaki H
BMC Health Serv Res; 2016 Jul; 16():241. PubMed ID: 27401940
[TBL] [Abstract][Full Text] [Related]
11. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
[TBL] [Abstract][Full Text] [Related]
12. Lessons from the Rare Diseases Registry and Analytics Platform framework for development of a national rare diseases registry for India.
Chaube P; Lankapalli A; Choudhury MC
J Biosci; 2024; 49():. PubMed ID: 38383976
[TBL] [Abstract][Full Text] [Related]
13. The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
Guien C; Blandin G; Lahaut P; Sanson B; Nehal K; Rabarimeriarijaona S; Bernard R; Lévy N; Sacconi S; Béroud C
Orphanet J Rare Dis; 2018 Dec; 13(1):218. PubMed ID: 30514324
[TBL] [Abstract][Full Text] [Related]
14. Data Quality in Rare Diseases Registries.
Kodra Y; Posada de la Paz M; Coi A; Santoro M; Bianchi F; Ahmed F; Rubinstein YR; Weinbach J; Taruscio D
Adv Exp Med Biol; 2017; 1031():149-164. PubMed ID: 29214570
[TBL] [Abstract][Full Text] [Related]
15. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).
Rubinstein YR; Groft SC; Bartek R; Brown K; Christensen RA; Collier E; Farber A; Farmer J; Ferguson JH; Forrest CB; Lockhart NC; McCurdy KR; Moore H; Pollen GB; Richesson R; Miller VR; Hull S; Vaught J
Contemp Clin Trials; 2010 Sep; 31(5):394-404. PubMed ID: 20609392
[TBL] [Abstract][Full Text] [Related]
16. Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y; Weinbach J; Posada-de-la-Paz M; Coi A; Lemonnier SL; van Enckevort D; Roos M; Jacobsen A; Cornet R; Ahmed SF; Bros-Facer V; Popa V; Van Meel M; Renault D; von Gizycki R; Santoro M; Landais P; Torreri P; Carta C; Mascalzoni D; Gainotti S; Lopez E; Ambrosini A; Müller H; Reis R; Bianchi F; Rubinstein YR; Lochmüller H; Taruscio D
Int J Environ Res Public Health; 2018 Aug; 15(8):. PubMed ID: 30081484
[TBL] [Abstract][Full Text] [Related]
17. Milestones of progression in myotonic dystrophy type 1 and type 2.
Hamel JI; McDermott MP; Hilbert JE; Martens WB; Luebbe E; Tawil R; Moxley RT; Thornton CA
Muscle Nerve; 2022 Oct; 66(4):508-512. PubMed ID: 35778789
[TBL] [Abstract][Full Text] [Related]
18. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L; Bassez G; Bleyenheuft C; Campbell C; Cossette L; Jimenez-Moreno AC; Dai Y; Dawkins H; Manera JAD; Dogan C; El Sherif R; Fossati B; Graham C; Hilbert J; Kastreva K; Kimura E; Korngut L; Kostera-Pruszczyk A; Lindberg C; Lindvall B; Luebbe E; Lusakowska A; Mazanec R; Meola G; Orlando L; Takahashi MP; Peric S; Puymirat J; Rakocevic-Stojanovic V; Rodrigues M; Roxburgh R; Schoser B; Segovia S; Shatillo A; Thiele S; Tournev I; van Engelen B; Vohanka S; Lochmüller H
Orphanet J Rare Dis; 2018 Sep; 13(1):155. PubMed ID: 30185236
[TBL] [Abstract][Full Text] [Related]
19. Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.
Fitzgerald BP; Conn KM; Smith J; Walker A; Parkhill AL; Hilbert JE; Luebbe EA; Moxley RT
J Neurol; 2016 Dec; 263(12):2528-2537. PubMed ID: 27734165
[TBL] [Abstract][Full Text] [Related]
20. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.
Higgs C; Hilbert JE; Wood L; Martens WB; Marini-Bettolo C; Nikolenko N; Alsaggaf R; Lochmüller H; Moxley RT; Greene MH; Wang Y; Gadalla SM
Front Neurol; 2019; 10():1071. PubMed ID: 31681146
[No Abstract] [Full Text] [Related]
[Next] [New Search]