PubMed for id: 55187

Year	Number of Results
1993	2
1996	1
1997	2
1998	1
2002	3
2003	2
2004	3
2006	1
2008	1
2009	1
2010	3
2011	2
2015	2
2018	8
2019	5
2020	6
2021	11
2022	4
2023	9
2024	1

1

Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.

Sultan T, Scorrano G, Panciroli M, Christoforou M, Raza Alvi J, Di Ludovico A, Qureshi S, Efthymiou S, Salpietro V, Houlden H. Sultan T, et al. Gene. 2024 Mar 20;899:148119. doi: 10.1016/j.gene.2023.148119. Epub 2023 Dec 29. Gene. 2024. PMID: 38160741

2

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.

Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K. Pauly MG, et al. Int J Mol Sci. 2023 Jan 18;24(3):1874. doi: 10.3390/ijms24031874. Int J Mol Sci. 2023. PMID: 36768210 Free PMC article. Review.

3

VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.

Öztop-Çakmak Ö, Şimşir G, Tekgül Ş, Aygün MS, Gökler O, Kahyaoğlu B, Kaya ZE, Palvadeau R, Başak AN, Ertan S. Öztop-Çakmak Ö, et al. Rev Neurol (Paris). 2022 Nov;178(9):907-913. doi: 10.1016/j.neurol.2022.05.005. Epub 2022 Sep 22. Rev Neurol (Paris). 2022. PMID: 36156252

4

VPS13D promotes peroxisome biogenesis.

Baldwin HA, Wang C, Kanfer G, Shah HV, Velayos-Baeza A, Dulovic-Mahlow M, Brüggemann N, Anding A, Baehrecke EH, Maric D, Prinz WA, Youle RJ. Baldwin HA, et al. J Cell Biol. 2021 May 3;220(5):e202001188. doi: 10.1083/jcb.202001188. J Cell Biol. 2021. PMID: 33891012 Free PMC article.

5

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. Koh K, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1108. doi: 10.1002/mgg3.1108. Epub 2019 Dec 26. Mol Genet Genomic Med. 2020. PMID: 31876103 Free PMC article.

6

VPS13D Movement Disorder.

Meijer IA. Meijer IA. 2019 Feb 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Feb 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30789691 Free Books & Documents. Review.

7

Recessive mutations in VPS13D cause childhood onset movement disorders.

Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Gauthier J, et al. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10. Ann Neurol. 2018. PMID: 29518281

8

VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.

Nakada TA, Boyd JH, Russell JA, Aguirre-Hernández R, Wilkinson MD, Thair SA, Nakada E, McConechy MK, Fjell CD, Walley KR. Nakada TA, et al. J Innate Immun. 2015;7(5):545-53. doi: 10.1159/000381265. Epub 2015 Apr 17. J Innate Immun. 2015. PMID: 25896417 Free PMC article. Clinical Trial.

9

Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions.

Swartz BE, Li S, Bespalova I, Burmeister M, Dulaney E, Robinson FR, Leigh RJ. Swartz BE, et al. Ann Neurol. 2003 Dec;54(6):824-8. doi: 10.1002/ana.10758. Ann Neurol. 2003. PMID: 14681893

10

A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.

Swartz BE, Burmeister M, Somers JT, Rottach KG, Bespalova IN, Leigh RJ. Swartz BE, et al. Ann N Y Acad Sci. 2002 Apr;956:441-4. doi: 10.1111/j.1749-6632.2002.tb02850.x. Ann N Y Acad Sci. 2002. PMID: 11960835 Free article. No abstract available.

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