PubMed for id: 337002

Year	Number of Results
1978	1
1980	1
1983	2
1984	2
1985	2
1986	3
1987	4
1988	7
1989	1
1990	3
1991	6
1992	5
1993	1
1994	1
1995	3
1996	9
1997	7
1998	7
1999	8
2000	7
2001	8
2002	5
2003	5
2004	9
2005	8
2006	11
2007	14
2008	11
2009	8
2010	12
2011	16
2012	11
2013	20
2014	19
2015	11
2016	14
2017	9
2018	15
2019	19
2020	22
2021	14
2022	16
2023	8
2024	4

1

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G. Longo I, et al. J Med Genet. 2003 Jan;40(1):11-7. doi: 10.1136/jmg.40.1.11. J Med Genet. 2003. PMID: 12525535 Free PMC article.

2

Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.

Takegami N, Matsukawa T, Hamada M, Tanifuji S, Tamura T, Yamaguchi-Takegami N, Ishiura H, Mitsui J, Sakuishi K, Tsuji S, Toda T. Takegami N, et al. Intern Med. 2024 Apr 1;63(7):999-1004. doi: 10.2169/internalmedicine.2240-23. Epub 2023 Aug 9. Intern Med. 2024. PMID: 37558478 Free PMC article.

3

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers.

Aishworiya R, Protic D, Tang SJ, Schneider A, Tassone F, Hagerman R. Aishworiya R, et al. Genes (Basel). 2022 Dec 17;13(12):2399. doi: 10.3390/genes13122399. Genes (Basel). 2022. PMID: 36553666 Free PMC article.

4

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.

Casamassa A, Zanetti A, Ferrari D, Lombardi I, Galluzzi G, D'Avanzo F, Cipressa G, Bertozzi A, Torrente I, Vescovi AL, Tomanin R, Rosati J. Casamassa A, et al. Stem Cell Res. 2022 Aug;63:102846. doi: 10.1016/j.scr.2022.102846. Epub 2022 Jun 21. Stem Cell Res. 2022. PMID: 35759972 Free article.

5

Efficacy and safety of cannabidivarin treatment of epilepsy in girls with Rett syndrome: A phase 1 clinical trial.

Hurley EN, Ellaway CJ, Johnson AM, Truong L, Gordon R, Galettis P, Martin JH, Lawson JA. Hurley EN, et al. Epilepsia. 2022 Jul;63(7):1736-1747. doi: 10.1111/epi.17247. Epub 2022 Apr 20. Epilepsia. 2022. PMID: 35364618 Free PMC article. Clinical Trial.

6

Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.

Lin JR, Cheng JF, Liu YT, Hsu TR, Lin KM, Chen C, Lin CL, Tsai MH, Tsai JW. Lin JR, et al. Epilepsia. 2022 May;63(5):1253-1265. doi: 10.1111/epi.17198. Epub 2022 Feb 25. Epilepsia. 2022. PMID: 35213059

7

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Agrawal N, et al. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. Eur J Med Genet. 2022. PMID: 35144014

8

Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies.

Bui QM, Hong KN, Kraushaar M, Ma GS, Brambatti M, Kahn AM, Battiha CE, Boynton K, Storm G, Mestroni L, Taylor MRG, DeMaria AN, Adler EA. Bui QM, et al. J Am Heart Assoc. 2021 Dec 7;10(23):e022544. doi: 10.1161/JAHA.121.022544. Epub 2021 Nov 30. J Am Heart Assoc. 2021. PMID: 34845930 Free PMC article.

9

Cardiac Transplantation in Danon Disease.

Hong KN, Battikha C, John S, Lin A, Bui QM, Brambatti M, Storm G, Boynton K, Medina-Hernandez D, Garcia-Alvarez A, Castel MA, Garcia-Guereta L, Diez Lopez C, Perez-Gomez L, Miani D, Symanski JD, Taylor MR, Garcia-Pavia P, Adler ED. Hong KN, et al. J Card Fail. 2022 Apr;28(4):664-669. doi: 10.1016/j.cardfail.2021.11.007. Epub 2021 Nov 11. J Card Fail. 2022. PMID: 34775111

10

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Good JM, Atallah I, Castro Jimenez M, Benninger D, Kuntzer T, Superti-Furga A, Tran C. Good JM, et al. Genes (Basel). 2021 May 6;12(5):695. doi: 10.3390/genes12050695. Genes (Basel). 2021. PMID: 34066437 Free PMC article.

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