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Page 1
Development and Validation of a Prognostic Model to Predict Overall Survival in Multiple System Atrophy.
Eschlboeck S, Goebel G, Eckhardt C, Fanciulli A, Raccagni C, Boesch S, Djamshidian A, Heim B, Mahlknecht P, Mair K, Nachbauer W, Scherfler C, Stockner H, Poewe W, Seppi K, Kiechl S, Wenning G, Krismer F; and the EMSA‐SG NHS Investigators; Barone P, Pellecchia MT, Quinn NP, Fowler CJ, Schrag A, Giladi N, Gurevich T, Ostergaard K, Widner H, Oertel W, Albanese A, Tolosa E, Deuschl G, Klockgether T, Dodel R, Sampaio C, Melamed E, Gasser T, Colosimo C, Rascol O, Meissner W, Tison F, Geser F, Duerr S, Boesch S, Köllensperger M, Koukouni V, Mathias CJ, Dupont E, Nilsson CF, Eggert KM, Del Sorbo F, Cardozo A, Hellriegel H, Coelho M, Djaldetti R, Kamm C, Meco G. Eschlboeck S, et al. Among authors: nachbauer w. Mov Disord Clin Pract. 2023 Jul 17;10(9):1368-1376. doi: 10.1002/mdc3.13822. eCollection 2023 Sep. Mov Disord Clin Pract. 2023. PMID: 37772304 Free PMC article.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Substantia nigra hypoechogenicity in Friedreich ataxia.
Stockner H, Sojer M, Hering S, Nachbauer W, Seppi K, Schmidauer C, Poewe W, Boesch SM. Stockner H, et al. Among authors: nachbauer w. Mov Disord. 2012 Feb;27(2):332-3. doi: 10.1002/mds.23989. Epub 2011 Dec 9. Mov Disord. 2012. PMID: 22161875 No abstract available.
139 results