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Page 1
Neuromuscular transmission in SCA6.
Schelhaas HJ, Van de Warrenburg BP, Kremer HP, Zwarts MJ. Schelhaas HJ, et al. Among authors: van de warrenburg bp. Ann Neurol. 2004 Mar;55(3):451-2. doi: 10.1002/ana.20015. Ann Neurol. 2004. PMID: 14991832 No abstract available.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M. Traschütz A, et al. Among authors: van de warrenburg bp. Mov Disord. 2023 Jun;38(6):1109-1112. doi: 10.1002/mds.29397. Epub 2023 Apr 7. Mov Disord. 2023. PMID: 37027459 No abstract available.
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Rezende TJR, Adanyaguh I, Barsottini OGP, Bender B, Cendes F, Coutinho L, Deistung A, Dogan I, Durr A, Fernandez-Ruiz J, Göricke SL, Grisoli M, Hernandez-Castillo CR, Lenglet C, Mariotti C, Martinez ARM, Massuyama BK, Mochel F, Nanetti L, Nigri A, Ono SE, Öz G, Pedroso JL, Reetz K, Synofzik M, Teive H, Thomopoulos SI, Thompson PM, Timmann D, van de Warrenburg BPC, van Gaalen J, França MC Jr, Harding IH. Rezende TJR, et al. J Neurol Neurosurg Psychiatry. 2024 Jun 17;95(7):682-690. doi: 10.1136/jnnp-2023-332696. J Neurol Neurosurg Psychiatry. 2024. PMID: 38383154 Free PMC article.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: van de warrenburg bp, de vries jj. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
Hommersom MP, Doorn N, Puvogel S, Lewerissa EI, Mordelt A, Ciptasari U, Kampshoff F, Dillen L, van Beusekom E, Oudakker A, Kogo N, Dolga AM, Frega M, Schubert D, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H. Hommersom MP, et al. Among authors: van de warrenburg bpc. Brain. 2024 Oct 26:awae330. doi: 10.1093/brain/awae330. Online ahead of print. Brain. 2024. PMID: 39460936
Therapeutic Strategies for Spinocerebellar Ataxia Type 1.
Kerkhof LMC, van de Warrenburg BPC, van Roon-Mom WMC, Buijsen RAM. Kerkhof LMC, et al. Biomolecules. 2023 May 2;13(5):788. doi: 10.3390/biom13050788. Biomolecules. 2023. PMID: 37238658 Free PMC article. Review.
Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study.
Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Portugal B, Lee PC, May P, Bobbili D, Radivojkov Blagojevic M, Lichtner P, Singleton AB, Hernandez D, Edsall C, Mellick GD, Zimprich AA, Pirker W, Rogaeva EA, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli AL, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, Van De Warrenburg BPC, Bloem BR, Toft M, Pihlstrøm L, Correia Guedes L, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Hellberg C, Clarke CE, Morrison KE, Tan MM, Krainc D, Burbulla LF, Farrer M, Kruger R, Gasser T, Sharma M, Elbaz A; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. Domenighetti C, et al. Neurology. 2024 Aug 13;103(3):e209620. doi: 10.1212/WNL.0000000000209620. Epub 2024 Jul 10. Neurology. 2024. PMID: 38986057
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
383 results