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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, … See abstract for full author list ➔ Wiessner M, et al. Among authors: bartesaghi l. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: bartesaghi l. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Shashi V, et al. Among authors: bartesaghi l. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12. EMBO J. 2018. PMID: 30420557 Free PMC article.
Sox4 participates in the modulation of Schwann cell myelination.
Bartesaghi L, Arnaud Gouttenoire E, Prunotto A, Médard JJ, Bergmann S, Chrast R. Bartesaghi L, et al. Eur J Neurosci. 2015 Jul;42(2):1788-96. doi: 10.1111/ejn.12929. Epub 2015 May 19. Eur J Neurosci. 2015. PMID: 25899854
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R. Gouttenoire EA, et al. Among authors: bartesaghi l. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N, van Hameren G, Juneja M, Pellegrino C, Louhivuori L, Bartesaghi L, Rochat C, El Mansour O, Médard JJ, Croisier M, Maclachlan C, Poirot O, Uhlén P, Timmerman V, Tricaud N, Schneider BL, Chrast R. Bernard-Marissal N, et al. Among authors: bartesaghi l. Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):2328-2337. doi: 10.1073/pnas.1810932116. Epub 2019 Jan 18. Proc Natl Acad Sci U S A. 2019. PMID: 30659145 Free PMC article.
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Bartesaghi L, Wang Y, Fontanet P, Wanderoy S, Berger F, Wu H, Akkuratova N, Bouçanova F, Médard JJ, Petitpré C, Landy MA, Zhang MD, Harrer P, Stendel C, Stucka R, Dusl M, Kastriti ME, Croci L, Lai HC, Consalez GG, Pattyn A, Ernfors P, Senderek J, Adameyko I, Lallemend F, Hadjab S, Chrast R. Bartesaghi L, et al. Cell Rep. 2019 Mar 26;26(13):3484-3492.e4. doi: 10.1016/j.celrep.2019.02.098. Cell Rep. 2019. PMID: 30917305 Free PMC article.
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X. Hor H, et al. Among authors: bartesaghi l. Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188006 Free PMC article.
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R, Espinós C. Sancho P, et al. Among authors: bartesaghi l. Hum Mol Genet. 2019 May 15;28(10):1629-1644. doi: 10.1093/hmg/ddz006. Hum Mol Genet. 2019. PMID: 30624633
23 results