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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 2
2005 1
2007 1
2008 4
2009 1
2010 2
2011 1
2013 1
2014 2
2015 5
2016 4
2017 5
2018 9
2019 8
2020 9
2021 12
2022 13
2023 7
2024 2

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80 results

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Page 1
Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group. Muschol N, et al. Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. Orphanet J Rare Dis. 2022. PMID: 36303195 Free PMC article. Review.
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer SD, Haas F, Wong MN, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting SW, Muntau AC, Kretz O, Hahn O, Rinschen MM, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti HP, Najafian B, Puelles VG, Schell C, Huber TB. Braun F, et al. Among authors: muschol n. J Clin Invest. 2023 Jun 1;133(11):e157782. doi: 10.1172/JCI157782. J Clin Invest. 2023. PMID: 37014703 Free PMC article.
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muschol N, Canaan-Kühl S, Brand E. Lenders M, et al. Among authors: muschol n. Eur Heart J Cardiovasc Pharmacother. 2022 May 5;8(3):272-281. doi: 10.1093/ehjcvp/pvab025. Eur Heart J Cardiovasc Pharmacother. 2022. PMID: 35512362
Hip pathologies in mucopolysaccharidosis type III.
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM. Breyer SR, et al. Among authors: muschol nm. J Orthop Surg Res. 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. J Orthop Surg Res. 2021. PMID: 33741007 Free PMC article.
Spinal cord compression in patients with mucopolysaccharidosis.
Pantel T, Lindschau M, Luebke AM, Kunkel P, Dreimann M, Muschol N, Eicker SO. Pantel T, et al. Among authors: muschol n. Eur Spine J. 2022 Jul;31(7):1693-1699. doi: 10.1007/s00586-022-07168-0. Epub 2022 Mar 10. Eur Spine J. 2022. PMID: 35267074
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Muschol N, et al. J Clin Invest. 2023 Jan 17;133(2):e165076. doi: 10.1172/JCI165076. J Clin Invest. 2023. PMID: 36413418 Free PMC article. Clinical Trial.
Hip Morphology in Mucolipidosis Type II.
Ammer LS, Oussoren E, Muschol NM, Pohl S, Rubio-Gozalbo ME, Santer R, Stuecker R, Vettorazzi E, Breyer SR. Ammer LS, et al. Among authors: muschol nm. J Clin Med. 2020 Mar 8;9(3):728. doi: 10.3390/jcm9030728. J Clin Med. 2020. PMID: 32182687 Free PMC article.
Retinal hyperreflective foci in Fabry disease.
Atiskova Y, Rassuli R, Koehn AF, Golsari A, Wagenfeld L, du Moulin M, Muschol N, Dulz S. Atiskova Y, et al. Among authors: muschol n. Orphanet J Rare Dis. 2019 Dec 26;14(1):296. doi: 10.1186/s13023-019-1267-2. Orphanet J Rare Dis. 2019. PMID: 31878969 Free PMC article.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
80 results