BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 36308527)

  • 1. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
    Krenn M; Sener M; Rath J; Zulehner G; Keritam O; Wagner M; Laccone F; Iglseder S; Marte S; Baumgartner M; Eisenkölbl A; Liechtenstein C; Rudnik S; Quasthoff S; Grinzinger S; Spenger J; Wortmann SB; Löscher WN; Zimprich F; Kellersmann A; Rappold M; Bernert G; Freilinger M; Cetin H
    J Neurol; 2023 Feb; 270(2):909-916. PubMed ID: 36308527
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
    Polavarapu K; Sunitha B; Töpf A; Preethish-Kumar V; Thompson R; Vengalil S; Nashi S; Bardhan M; Sanka SB; Huddar A; Unnikrishnan G; Arunachal G; Girija MS; Porter A; Azuma Y; Lorenzoni PJ; Baskar D; Anjanappa RM; Keertipriya M; Padmanabh H; Harikrishna GV; Laurie S; Matalonga L; Horvath R; Nalini A; Lochmüller H
    Brain; 2024 Jan; 147(1):281-296. PubMed ID: 37721175
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular characterization of congenital myasthenic syndromes in Spain.
    Natera-de Benito D; Töpf A; Vilchez JJ; González-Quereda L; Domínguez-Carral J; Díaz-Manera J; Ortez C; Bestué M; Gallano P; Dusl M; Abicht A; Müller JS; Senderek J; García-Ribes A; Muelas N; Evangelista T; Azuma Y; McMacken G; Paipa Merchan A; Rodríguez Cruz PM; Camacho A; Jiménez E; Miranda-Herrero MC; Santana-Artiles A; García-Campos O; Dominguez-Rubio R; Olivé M; Colomer J; Beeson D; Lochmüller H; Nascimento A
    Neuromuscul Disord; 2017 Dec; 27(12):1087-1098. PubMed ID: 29054425
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
    Eymard B; Stojkovic T; Sternberg D; Richard P; Nicole S; Fournier E; Béhin A; Laforêt P; Servais L; Romero N; Fardeau M; Hantaï D;
    Rev Neurol (Paris); 2013 Feb; 169 Suppl 1():S45-55. PubMed ID: 23452772
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
    Estephan EP; Zambon AA; Thompson R; Polavarapu K; Jomaa D; Töpf A; Helito PVP; Heise CO; Moreno CAM; Silva AMS; Kouyoumdjian JA; Morita MDP; Reed UC; Lochmüller H; Zanoteli E
    Eur J Neurol; 2022 Mar; 29(3):833-842. PubMed ID: 34749429
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
    Theuriet J; Masingue M; Behin A; Ferreiro A; Bassez G; Jaubert P; Tarabay O; Fer F; Pegat A; Bouhour F; Svahn J; Petiot P; Jomir L; Chauplannaz G; Cornut-Chauvinc C; Manel V; Salort-Campana E; Attarian S; Fortanier E; Verschueren A; Kouton L; Camdessanché JP; Tard C; Magot A; Péréon Y; Noury JB; Minot-Myhie MC; Perie M; Taithe F; Farhat Y; Millet AL; Cintas P; Solé G; Spinazzi M; Esselin F; Renard D; Sacconi S; Ezaru A; Malfatti E; Mallaret M; Magy L; Diab E; Merle P; Michaud M; Fournier M; Pakleza AN; Chanson JB; Lefeuvre C; Laforet P; Richard P; Sternberg D; Villar-Quiles RN; Stojkovic T; Eymard B
    Brain; 2024 May; ():. PubMed ID: 38696726
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.
    Troha Gergeli A; Neubauer D; Golli T; Butenko T; Loboda T; Maver A; Osredkar D
    Eur J Paediatr Neurol; 2020 May; 26():34-38. PubMed ID: 32070632
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital myasthenic syndrome: a brief review.
    Lorenzoni PJ; Scola RH; Kay CS; Werneck LC
    Pediatr Neurol; 2012 Mar; 46(3):141-8. PubMed ID: 22353287
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
    Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.
    Öztürk S; Güleç A; Erdoğan M; Demir M; Canpolat M; Gümüş H; Çağlayan AO; Dündar M; Per H
    Pediatr Neurol; 2022 Nov; 136():43-49. PubMed ID: 36099689
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
    Selvam P; Arunachal G; Danda S; Chapla A; Sivadasan A; Alexander M; Thomas MM; Thomas NJ
    J Clin Neuromuscul Dis; 2018 Sep; 20(1):14-27. PubMed ID: 30124556
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
    Mishra S; Nair KV; Shukla A
    Clin Dysmorphol; 2023 Oct; 32(4):162-167. PubMed ID: 37646703
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
    Ohno K; Ohkawara B; Shen XM; Selcen D; Engel AG
    Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36835142
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
    Aharoni S; Sadeh M; Shapira Y; Edvardson S; Daana M; Dor-Wollman T; Mimouni-Bloch A; Halevy A; Cohen R; Sagie L; Argov Z; Rabie M; Spiegel R; Chervinsky I; Orenstein N; Engel AG; Nevo Y
    Neuromuscul Disord; 2017 Feb; 27(2):136-140. PubMed ID: 28024842
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
    Gül Mert G; Özcan N; Hergüner Ö; Altunbaşak Ş; Incecik F; Bişgin A; Ceylaner S
    Acta Neurol Belg; 2021 Apr; 121(2):529-534. PubMed ID: 31773638
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
    Estephan EP; Sobreira CFDR; Dos Santos ACJ; Tomaselli PJ; Marques W; Ortega RPM; Costa MCM; da Silva AMS; Mendonça RH; Caldas VM; Zambon AA; Abath Neto O; Marchiori PE; Heise CO; Reed UC; Azuma Y; Töpf A; Lochmüller H; Zanoteli E
    J Neurol; 2018 Mar; 265(3):708-713. PubMed ID: 29383513
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
    Kinali M; Beeson D; Pitt MC; Jungbluth H; Simonds AK; Aloysius A; Cockerill H; Davis T; Palace J; Manzur AY; Jimenez-Mallebrera C; Sewry C; Muntoni F; Robb SA
    J Neuroimmunol; 2008 Sep; 201-202():6-12. PubMed ID: 18707767
    [TBL] [Abstract][Full Text] [Related]  

  • 18. COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
    Hesami O; Ramezani M; Ghasemi A; Fatehi F; Okhovat AA; Ziaadini B; Kariminejad A; Nafissi S
    Orphanet J Rare Dis; 2024 Mar; 19(1):113. PubMed ID: 38475910
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
    Stojkovic T; Masingue M; Turmel H; Hezode-Arzel M; Béhin A; Leonard-Louis S; Bassez G; Bauché S; Blondy P; Richard P; Sternberg D; Eymard B; Fournier E; Villar-Quiles RN
    Neuromuscul Disord; 2022 Dec; 32(11-12):870-878. PubMed ID: 36522822
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital myasthenic syndrome in China: genetic and myopathological characterization.
    Zhao Y; Li Y; Bian Y; Yao S; Liu P; Yu M; Zhang W; Wang Z; Yuan Y
    Ann Clin Transl Neurol; 2021 Apr; 8(4):898-907. PubMed ID: 33756069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.