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1.
The Arylamine N-Acetyltransferases as Therapeutic Targets in Metabolic Diseases Associated with Mitochondrial Dysfunction.
Pharmacol Rev
; 76(2): 300-320, 2024 Feb 13.
Article
in English
| MEDLINE | ID: mdl-38351074
2.
Characterization of the skeletal muscle arginine methylome in health and disease reveals remodeling in amyotrophic lateral sclerosis.
FASEB J
; 38(10): e23647, 2024 May 31.
Article
in English
| MEDLINE | ID: mdl-38787599
3.
Associations of postprandial ghrelin, liver-expressed antimicrobial peptide 2 and leptin levels with body composition, disease progression and survival in patients with amyotrophic lateral sclerosis.
Eur J Neurol
; 31(1): e16052, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37658515
4.
Skeletal muscle in amyotrophic lateral sclerosis.
Brain
; 146(11): 4425-4436, 2023 11 02.
Article
in English
| MEDLINE | ID: mdl-37327376
5.
Sphingolipids metabolism alteration in the central nervous system: Amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases.
Semin Cell Dev Biol
; 112: 82-91, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33160824
6.
Lower hypothalamic volume with lower body mass index is associated with shorter survival in patients with amyotrophic lateral sclerosis.
Eur J Neurol
; 30(1): 57-68, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36214080
7.
Venous creatinine as a biomarker for loss of fat-free mass and disease progression in patients with amyotrophic lateral sclerosis.
Eur J Neurol
; 28(11): 3615-3625, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34216521
8.
Lipids: Key players in central nervous system cell physiology and pathology.
Semin Cell Dev Biol
; 112: 59-60, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33589335
9.
Hypermetabolism in ALS is associated with greater functional decline and shorter survival.
J Neurol Neurosurg Psychiatry
; 89(10): 1016-1023, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29706605
10.
Development of a high-throughput method for real-time assessment of cellular metabolism in intact long skeletal muscle fibre bundles.
J Physiol
; 594(24): 7197-7213, 2016 12 15.
Article
in English
| MEDLINE | ID: mdl-27619319
11.
Altered Metabolic Homeostasis in Amyotrophic Lateral Sclerosis: Mechanisms of Energy Imbalance and Contribution to Disease Progression.
Neurodegener Dis
; 16(5-6): 382-97, 2016.
Article
in English
| MEDLINE | ID: mdl-27400276
12.
Prognostic value of weight loss in patients with amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 91(8): 813, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32576614
13.
Neuregulin-1 potentiates agrin-induced acetylcholine receptor clustering through muscle-specific kinase phosphorylation.
J Cell Sci
; 125(Pt 6): 1531-43, 2012 Mar 15.
Article
in English
| MEDLINE | ID: mdl-22328506
14.
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.
J Neurol Neurosurg Psychiatry
; 90(8): 952-954, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30196251
15.
Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients.
Stem Cell Res
; 78: 103447, 2024 May 23.
Article
in English
| MEDLINE | ID: mdl-38796984
16.
Variation in Resting Metabolic Rate Affects Identification of Metabolic Change in Geographically Distinct Cohorts of Patients With ALS.
Neurology
; 102(5): e208117, 2024 Mar 12.
Article
in English
| MEDLINE | ID: mdl-38350046
17.
A transient protein folding response targets aggregation in the early phase of TDP-43-mediated neurodegeneration.
Nat Commun
; 15(1): 1508, 2024 Feb 19.
Article
in English
| MEDLINE | ID: mdl-38374041
18.
Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation.
Stem Cell Res
; 70: 103137, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37315423
19.
Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease.
J Neurol
; 270(5): 2597-2605, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36740646
20.
Altered TDP-43 Structure and Function: Key Insights into Aberrant RNA, Mitochondrial, and Cellular and Systemic Metabolism in Amyotrophic Lateral Sclerosis.
Metabolites
; 12(8)2022 Jul 29.
Article
in English
| MEDLINE | ID: mdl-36005581