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Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Chia R, Saez-Atienzar S, Murphy N, Chiò A, Blauwendraat C; International Myasthenia Gravis Genomics Consortium; Roda RH, Tienari PJ, Kaminski HJ, Ricciardi R, Guida M, De Rosa A, Petrucci L, Evoli A, Provenzano C, Drachman DB, Traynor BJ. Chia R, et al. Among authors: roda rh. Proc Natl Acad Sci U S A. 2022 Feb 1;119(5):e2108672119. doi: 10.1073/pnas.2108672119. Proc Natl Acad Sci U S A. 2022. PMID: 35074870 Free PMC article.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi PA, Sumner CJ, Roda RH, Chaudhry V, Lloyd TE, Crawford TO, Subramony SH, Oh SJ, Richardson P, Tanji K, Kwan JY, Fischbeck KH, Mankodi A. Grunseich C, et al. Among authors: roda rh. J Neurol Neurosurg Psychiatry. 2021 Nov;92(11):1186-1196. doi: 10.1136/jnnp-2020-325437. Epub 2021 Jun 8. J Neurol Neurosurg Psychiatry. 2021. PMID: 34103343 Free PMC article.
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Hirst J, et al. Among authors: roda rh. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC. Hirst J, et al. Among authors: roda rh. Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27606357 Free PMC article.
33 results