Detalhe da pesquisa
1.
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Nat Rev Genet
; 24(9): 642-658, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37024676
2.
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
N Engl J Med
; 387(12): 1099-1110, 2022 09 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36129998
3.
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Ann Neurol
; 2024 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38568044
4.
Giving Breath to Motor Neurons: Noninvasive Mechanical Ventilation Slows Disease Progression in Amyotrophic Lateral Sclerosis.
Ann Neurol
; 95(4): 817-822, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38284771
5.
Sex Differences in Amyotrophic Lateral Sclerosis Survival and Progression: A Multidimensional Analysis.
Ann Neurol
; 2024 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38568048
6.
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Proc Natl Acad Sci U S A
; 119(5)2022 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35074870
7.
A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
Clin Genet
; 105(4): 430-433, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38092667
8.
Use of the combination of spirometry, arterial blood gas analysis and overnight oximetry to predict the outcomes of patients affected by motor neuron disease: The Milan-Torin respiratory score (Mi-To-RS).
Eur J Neurol
; : e16316, 2024 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38716751
9.
Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers.
Eur J Neurol
; 31(6): e16266, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38469975
10.
European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD).
Eur J Neurol
; 31(6): e16264, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38470068
11.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36797998
12.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36925053
13.
Role of brain 2-[18F]fluoro-2-deoxy-D-glucose-positron-emission tomography as survival predictor in amyotrophic lateral sclerosis.
Eur J Nucl Med Mol Imaging
; 50(3): 784-791, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36308536
14.
Epidemiology of Spinocerebellar Ataxias in Europe.
Cerebellum
; 2023 Sep 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37698771
15.
Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors.
Muscle Nerve
; 68(3): 323-328, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37466098
16.
Amyotrophic lateral sclerosis regional progression intervals change according to time of involvement of different body regions.
Eur J Neurol
; 30(4): 872-880, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36617536
17.
Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis.
Brain
; 145(1): 276-284, 2022 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35076694
18.
SOMAscan Proteomics Identifies Novel Plasma Proteins in Amyotrophic Lateral Sclerosis Patients.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36768220
19.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO J
; 37(11)2018 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29764981
20.
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats.
J Neurol Neurosurg Psychiatry
; 2022 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36008116