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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
Paucar M, Nilsson D, Engvall M, Laffita-Mesa J, Söderhäll C, Skorpil M, Halldin C, Fazio P, Lagerstedt-Robinson K, Solders G, Angeria M, Varrone A, Risling M, Jiao H, Nennesmo I, Wedell A, Svenningsson P. Paucar M, et al. Among authors: nennesmo i. J Intern Med. 2024 Sep;296(3):234-248. doi: 10.1111/joim.13815. Epub 2024 Jul 7. J Intern Med. 2024. PMID: 38973251
[11 C]PBB3 binding in Aβ(-) or Aβ(+) corticobasal syndrome.
Cselényi Z, Wallin J, Tjerkoski J, Bloth B, Svensson S, Nennesmo I, Sunnemark D, Jelic V, Farde L, Svenningsson P. Cselényi Z, et al. Among authors: nennesmo i. Synapse. 2023 Jul;77(4):e22269. doi: 10.1002/syn.22269. Epub 2023 Apr 30. Synapse. 2023. PMID: 36951466 Free article.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, Anderlid BM, Hammarsjö A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Ek M, et al. Among authors: nennesmo i. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
Filograna R, Gerlach J, Choi HN, Rigoni G, Barbaro M, Oscarson M, Lee S, Tiklova K, Ringnér M, Koolmeister C, Wibom R, Riggare S, Nennesmo I, Perlmann T, Wredenberg A, Wedell A, Motori E, Svenningsson P, Larsson NG. Filograna R, et al. Among authors: nennesmo i. NPJ Parkinsons Dis. 2024 Apr 29;10(1):93. doi: 10.1038/s41531-024-00707-0. NPJ Parkinsons Dis. 2024. PMID: 38684669 Free PMC article.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: nennesmo i. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
Single-cell profiling of muscle-infiltrating T cells in idiopathic inflammatory myopathies.
Argyriou A, Horuluoglu B, Galindo-Feria AS, Diaz-Boada JS, Sijbranda M, Notarnicola A, Dani L, van Vollenhoven A, Ramsköld D, Nennesmo I, Dastmalchi M, Lundberg IE, Diaz-Gallo LM, Chemin K. Argyriou A, et al. Among authors: nennesmo i. EMBO Mol Med. 2023 Oct 11;15(10):e17240. doi: 10.15252/emmm.202217240. Epub 2023 Jul 31. EMBO Mol Med. 2023. PMID: 37522383 Free PMC article.
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA; Pick's disease International Consortium. Valentino RR, et al. Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8. Lancet Neurol. 2024. PMID: 38631765 Free article.
Creating the Pick's disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick's disease.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Warner TT, Jaunmuktane Z, Boeve BF, Christopher EA, DeTure M, Duara R, Graff-Radford NR, Josephs KA, Knopman DS, Koga S, Murray ME, Lyons KE, Pahwa R, Parisi JE, Petersen RC, Whitwell J, Grinberg LT, Miller B, Schlereth A, Seeley WW, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Trojanowski JQ, Van Deerlin VM, Wolk DA, Connors TR, Dooley PM, Frosch MP, Oakley DH, Aldecoa I, Balasa M, Gelpi E, Borrego-Écija S, de Eugenio Huélamo RM, Gascon-Bayarri J, Sánchez-Valle R, Sanz-Cartagena P, Piñol-Ripoll G, Molina-Porcel L, Bigio EH, Flanagan ME, Gefen T, Rogalski EJ, Weintraub S, Redding-Ochoa J, Chang K, Troncoso JC, Prokop S, Newell KL, Ghetti B, Jones M, Richardson A, Robinson AC, Roncaroli F, Snowden J, Allinson K, Green O, Rowe JB, Singh P, Beach TG, Serrano GE, Flowers XE, Goldman JE, Heaps AC, Leskinen SP, Teich AF, Black SE, Keith JL, Masellis M, Bodi I, King A, Sarraj SA, Troakes C, Halliday GM, Hodges JR, Kril JJ, Kwok JB, Piguet O, Gearing M, Arzberger T, Roeber S, Attems J, Morris CM, Thomas AJ, Ever… See abstract for full author list ➔ Valentino RR, et al. Among authors: nennesmo i. medRxiv [Preprint]. 2023 Apr 24:2023.04.17.23288471. doi: 10.1101/2023.04.17.23288471. medRxiv. 2023. Update in: Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8 PMID: 37163045 Free PMC article. Updated. Preprint.
141 results