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

Year Number of Results
2002 1
2003 1
2011 1
2014 1
2015 2
2016 1
2018 1
2019 1
2020 3
2021 1
2022 4
2023 1
2024 1

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PubMed for id: 1680245

16 results

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Page 1
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.
Ehsani E, Khamirani HJ, Abbasi Z, Gohari M, Zoghi S, Mohammadi S, Dianatpour M, Tabei SMB, Mohamadjani O, Dastgheib SA. Ehsani E, et al. Eur J Med Genet. 2022 Aug;65(8):104552. doi: 10.1016/j.ejmg.2022.104552. Epub 2022 Jun 22. Eur J Med Genet. 2022. PMID: 35752288 Review.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Calame DG, et al. Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28. Ann Neurol. 2022. PMID: 35471564 Free PMC article.
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Gómez-González C, Pizarro-Sánchez C, Rodríguez-Antolín C, Pascual-Pascual I, Garcia-Romero M, Rodriguez-Jiménez C, de Sancho-Martín R, Del Pozo-Mate Á, Solís-López M, Prior-de Castro C, Torres RJ. Gómez-González C, et al. Ann Hum Genet. 2022 May;86(3):109-118. doi: 10.1111/ahg.12455. Epub 2021 Dec 20. Ann Hum Genet. 2022. PMID: 34927723
A novel homozygous KY variant causing a complex neurological disorder.
Arif B, Rasheed A, Kumar KR, Fatima A, Abbas G, Wohler E, Sobriera N, Lohmann K, Naz S; Baylor-Hopkins Center for Mendelian Genomics. Arif B, et al. Eur J Med Genet. 2020 Nov;63(11):104031. doi: 10.1016/j.ejmg.2020.104031. Epub 2020 Aug 18. Eur J Med Genet. 2020. PMID: 32818658 Free PMC article.
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM. Hobbelink SMR, et al. Brain Behav. 2018 Feb 21;8(4):e00919. doi: 10.1002/brb3.919. eCollection 2018 Apr. Brain Behav. 2018. PMID: 29670817 Free PMC article.
16 results