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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 3 |
2022 | 2 |
2024 | 1 |
Search Results
6 results
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Page 1
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.
Trends Neurosci. 2024 Mar;47(3):227-238. doi: 10.1016/j.tins.2024.01.004. Epub 2024 Feb 14.
Trends Neurosci. 2024.
PMID: 38360512
Review.
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A.
Costa A, et al.
J Community Genet. 2022 Jun;13(3):313-327. doi: 10.1007/s12687-022-00589-w. Epub 2022 May 6.
J Community Genet. 2022.
PMID: 35523996
Free PMC article.
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Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
Wilke C, Reich S, van Swieten JC, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Bocchetta M, Todd E, Kuhle J, Barro C; Genetic Frontotemporal dementia Initiative (GENFI); Rohrer JD, Synofzik M.
Wilke C, et al.
Ann Neurol. 2022 Jan;91(1):33-47. doi: 10.1002/ana.26265. Epub 2021 Nov 29.
Ann Neurol. 2022.
PMID: 34743360
Free article.
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Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M, Blanco FDV, Trepiccione F, Blasio G, Torella A, Melluso A, Capolongo G, Pollastro RM, Piluso G, Di Iorio V, Simonelli F, Viggiano D, Perna A, Nigro V, Capasso G.
Zacchia M, et al.
J Nephrol. 2021 Dec;34(6):1855-1874. doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8.
J Nephrol. 2021.
PMID: 33964006
Free PMC article.
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A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.
Mengel D, Traschütz A, Reich S, Leyva-Gutiérrez A, Bender F, Hauser S, Haack TB, Synofzik M.
Mengel D, et al.
J Neurol. 2021 Oct;268(10):3845-3851. doi: 10.1007/s00415-021-10524-7. Epub 2021 Apr 3.
J Neurol. 2021.
PMID: 33811518
Free PMC article.
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Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.
Te Paske IBAW, Ligtenberg MJL, Hoogerbrugge N, de Voer RM.
Te Paske IBAW, et al.
Int J Mol Sci. 2020 Nov 19;21(22):8757. doi: 10.3390/ijms21228757.
Int J Mol Sci. 2020.
PMID: 33228212
Free PMC article.
Review.
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