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1.
The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.
Int J Mol Sci
; 23(10)2022 May 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35628504
2.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Neurogenetics
; 22(1): 33-41, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33405017
3.
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
Stem Cell Res
; 77: 103411, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38582058
4.
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Stem Cell Res
; 77: 103410, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38583293
5.
Pharmacometabolomics applied to low-dose interleukin-2 treatment in amyotrophic lateral sclerosis.
Ann N Y Acad Sci
; 1536(1): 82-91, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38771698
6.
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Stem Cell Res
; 73: 103258, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38029555
7.
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Stem Cell Res
; 63: 102829, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35728439
8.
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.
Stem Cell Res
; 63: 102830, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35728440
9.
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
Stem Cell Res
; 53: 102273, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33740643
10.
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Stem Cell Res
; 55: 102482, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34388489
11.
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Neurobiol Aging
; 99: 102.e11-102.e20, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33218681
12.
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Neurobiol Aging
; 58: 239.e11-239.e20, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28716533
13.
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Eur J Hum Genet
; 23(9): 1116-23, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25537360
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