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1.
Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.
EMBO J
; 41(22): e110963, 2022 11 17.
Article
in English
| MEDLINE | ID: mdl-36217825
2.
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Am J Hum Genet
; 110(3): 442-459, 2023 03 02.
Article
in English
| MEDLINE | ID: mdl-36812914
3.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genet Med
; 26(6): 101117, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38459834
4.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Article
in English
| MEDLINE | ID: mdl-35979925
5.
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Nucleic Acids Res
; 50(21): 12400-12424, 2022 11 28.
Article
in English
| MEDLINE | ID: mdl-35947650
6.
Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.
J Proteome Res
; 22(9): 3081-3095, 2023 09 01.
Article
in English
| MEDLINE | ID: mdl-37585105
7.
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Annu Rev Genomics Hum Genet
; 21: 231-261, 2020 08 31.
Article
in English
| MEDLINE | ID: mdl-32004094
8.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet
; 107(4): 763-777, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32937143
9.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Acta Neuropathol
; 146(3): 477-498, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37369805
10.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Cell Mol Life Sci
; 79(10): 526, 2022 Sep 22.
Article
in English
| MEDLINE | ID: mdl-36136249
11.
Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.
Int J Mol Sci
; 24(4)2023 Feb 20.
Article
in English
| MEDLINE | ID: mdl-36835624
12.
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
Am J Hum Genet
; 105(1): 221-230, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230718
13.
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur J Neurol
; 29(7): 2084-2096, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35318785
14.
Mapping of the amniotic fluid proteome of fetuses with congenital anomalies of the kidney and urinary tract identifies plastin 3 as a protein involved in glomerular integrity.
J Pathol
; 254(5): 575-588, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33987838
15.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Article
in English
| MEDLINE | ID: mdl-33559681
16.
Plastin 3 in health and disease: a matter of balance.
Cell Mol Life Sci
; 78(13): 5275-5301, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-34023917
17.
S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases.
Int J Mol Sci
; 23(24)2022 Dec 13.
Article
in English
| MEDLINE | ID: mdl-36555492
18.
Mitochondrial Dysfunction in Spinal Muscular Atrophy.
Int J Mol Sci
; 23(18)2022 Sep 17.
Article
in English
| MEDLINE | ID: mdl-36142791
19.
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum Mutat
; 42(4): 460-472, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33600046
20.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30100084