PubMed for id: 1648286

Year	Number of Results
2006	1
2011	1
2013	1
2014	1
2015	2
2016	1
2017	1
2018	2
2019	3
2020	2
2021	1
2022	1
2023	0

1

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B. Karakaya M, et al. Am J Med Genet A. 2019 Aug;179(8):1580-1584. doi: 10.1002/ajmg.a.61198. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102495 Review.

2

A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?

Türay S, Eröz R, Başak AN. Türay S, et al. Neurogenetics. 2021 May;22(2):127-132. doi: 10.1007/s10048-021-00643-8. Epub 2021 Apr 28. Neurogenetics. 2021. PMID: 33909173 Review.

3

Single-ion magnet behaviour in mononuclear and two-dimensional dicyanamide-containing cobalt(ii) complexes.

Switlicka-Olszewska A, Palion-Gazda J, Klemens T, Machura B, Vallejo J, Cano J, Lloret F, Julve M. Switlicka-Olszewska A, et al. Dalton Trans. 2016 Jun 21;45(25):10181-93. doi: 10.1039/c6dt01160h. Dalton Trans. 2016. PMID: 27151823

4

Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg.

Efendic F, Völkner C, Krohn S, Murua Escobar H, Venkateswaran S, Bennett S, Hermann A, Frech MJ. Efendic F, et al. Stem Cell Res. 2022 Aug;63:102863. doi: 10.1016/j.scr.2022.102863. Epub 2022 Jul 12. Stem Cell Res. 2022. PMID: 35843022 Free article.

5

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.

Aryan H, Razmara E, Farhud D, Zarif-Yeganeh M, Zokaei S, Hassani SA, Ashrafi MR, Garshasbi M, Tavasoli AR. Aryan H, et al. BMC Neurol. 2020 Aug 3;20(1):291. doi: 10.1186/s12883-020-01873-3. BMC Neurol. 2020. PMID: 32746785 Free PMC article. Review.

6

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbøl EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M. Fagerberg CR, et al. Brain. 2020 Jan 1;143(1):94-111. doi: 10.1093/brain/awz376. Brain. 2020. PMID: 31855247

7

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Rattay TW, et al. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. Brain. 2019. PMID: 31135052 Free PMC article.

8

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B. Darling A, et al. Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 30340910

9

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Ebrahimi-Fakhari D. Ebrahimi-Fakhari D. Neuropediatrics. 2018 Feb;49(1):18-25. doi: 10.1055/s-0037-1608652. Epub 2017 Nov 7. Neuropediatrics. 2018. PMID: 29112993 Review.

10

Ataxia telangiectasia.

Nissenkorn A, Ben-Zeev B. Nissenkorn A, et al. Handb Clin Neurol. 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. Handb Clin Neurol. 2015. PMID: 26564081 Review.

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