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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, 't Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D'Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Atalaia A, et al. Among authors: haberlova j. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. Orphanet J Rare Dis. 2024. PMID: 38355534 Free PMC article. Review.
Patients' Perceptions of Nusinersen Effects According to Their Responder Status.
Lilien C, Vrscaj E, Thapaliya G, Deconinck N, De Waele L, Duong T, Haberlová J, Kumhera M, Peirens G, Szabo L, Tahon V, Tang WJ, Benmhammed N, Médard L, Servais L. Lilien C, et al. Among authors: haberlova j. J Clin Med. 2024 Jun 11;13(12):3418. doi: 10.3390/jcm13123418. J Clin Med. 2024. PMID: 38929947 Free PMC article.
2024 update: European consensus statement on gene therapy for spinal muscular atrophy.
Kirschner J, Bernert G, Butoianu N, De Waele L, Fattal-Valevski A, Haberlova J, Moreno T, Klein A, Kostera-Pruszczyk A, Mercuri E, Quijano-Roy S, Sejersen T, Tizzano EF, van der Pol WL, Wallace S, Zafeiriou D, Ziegler A, Muntoni F, Servais L. Kirschner J, et al. Among authors: haberlova j. Eur J Paediatr Neurol. 2024 Jul;51:73-78. doi: 10.1016/j.ejpn.2024.06.001. Epub 2024 Jun 8. Eur J Paediatr Neurol. 2024. PMID: 38878702 Free article.
Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment.
Juříková L, Masárová L, Panovský R, Pešl M, Revendová KŽ, Volný O, Feitová V, Holeček T, Kincl V, Danhofer P, Voháňka S, Haberlová J, Podolská K. Juříková L, et al. Among authors: haberlova j. Front Neurol. 2024 Feb 8;15:1360385. doi: 10.3389/fneur.2024.1360385. eCollection 2024. Front Neurol. 2024. PMID: 38390598 Free PMC article.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL, Hoffman EP. Dang UJ, et al. Among authors: haberlova j. Neurology. 2024 Mar 12;102(5):e208112. doi: 10.1212/WNL.0000000000208112. Epub 2024 Feb 9. Neurology. 2024. PMID: 38335499 Free PMC article. Clinical Trial.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J, Kramářová T, Kopčilová J, Réblová K, Haberlová J, Mazanec R, Voháňka S, Gřegořová A, Langová M, Honzík T, Šoukalová J, Ošlejšková H, Solařová P, Vyhnálková E, Fajkusová L. Zídková J, et al. Among authors: haberlova j. Clin Genet. 2023 Nov;104(5):542-553. doi: 10.1111/cge.14407. Epub 2023 Aug 1. Clin Genet. 2023. PMID: 37526466
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova M, Prchalova D, Zimmermann P, Haberlova J, Bendova S, Moslerova V, Stranecky V, Sedlacek Z, Hancarova M. Vlckova M, et al. Among authors: haberlova j. Mol Genet Genomic Med. 2023 Jun;11(6):e2154. doi: 10.1002/mgg3.2154. Epub 2023 Feb 24. Mol Genet Genomic Med. 2023. PMID: 36840359 Free PMC article.
A progressive KY myopathy could be caused by a missense pathogenic variant.
Uhrova-Meszarosova A, Vlckova M, Rennerova L, Haberlova J, Zamecnik J, Seeman P, Safka-Brozkova D. Uhrova-Meszarosova A, et al. Among authors: haberlova j. Clin Genet. 2023 Jun;103(6):723-725. doi: 10.1111/cge.14302. Epub 2023 Jan 28. Clin Genet. 2023. PMID: 36683559 No abstract available.
61 results