Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

448 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Among authors: synofzik m. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Corrigendum to "Systemic inflammation relates to neuroaxonal damage associated with long-term cognitive dysfunction in COVID-19 patients" [Brain Behav. Immun. 117 (2024) 510-520].
Duindam HB, Mengel D, Kox M, Göpfert JC, Kessels RPC, Synofzik M, Pickkers P, Abdo WF. Duindam HB, et al. Among authors: synofzik m. Brain Behav Immun. 2024 May 9:S0889-1591(24)00368-4. doi: 10.1016/j.bbi.2024.04.020. Online ahead of print. Brain Behav Immun. 2024. PMID: 38729788 Free article. No abstract available.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: synofzik m. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: synofzik m. Brain. 2024 May 13:awae055. doi: 10.1093/brain/awae055. Online ahead of print. Brain. 2024. PMID: 38735647
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.
Potashman M, Rudell K, Pavisic I, Suminski N, Doma R, Heinrich M, Abetz-Webb L, Beiner MW, Kuo SH, Rosenthal LS, Zesiwicz T, Fife TD, van de Warrenburg BP, Ristori G, Synofzik M, Perlman S, Schmahmann JD, L'Italien G. Potashman M, et al. Among authors: synofzik m. Cerebellum. 2024 May 7. doi: 10.1007/s12311-024-01700-2. Online ahead of print. Cerebellum. 2024. PMID: 38713312
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
Hendrickx N, Mentré F, Traschütz A, Gagnon C, Schüle R; ARCA Study Group; EVIDENCE-R. N. D. consortium; Synofzik M, Comets E. Hendrickx N, et al. Among authors: synofzik m. AAPS J. 2024 Apr 30;26(3):57. doi: 10.1208/s12248-024-00925-7. AAPS J. 2024. PMID: 38689016
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Pasternak M, et al. Among authors: synofzik m. Alzheimers Dement. 2024 May;20(5):3525-3542. doi: 10.1002/alz.13750. Epub 2024 Apr 16. Alzheimers Dement. 2024. PMID: 38623902 Italian.
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Ber IL, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL;  Genetic FTD Initiative (GENFI). Samra K, et al. Among authors: synofzik m. Alzheimers Dement (Amst). 2024 Apr 14;16(2):e12571. doi: 10.1002/dad2.12571. eCollection 2024 Apr-Jun. Alzheimers Dement (Amst). 2024. PMID: 38623386 Free PMC article.
448 results