Detalhe da pesquisa
1.
Neurological complications of COVID-19 in hospitalized patients: The registry of a neurology department in the first wave of the pandemic.
Eur J Neurol
; 28(10): 3339-3347, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474816
2.
Immunoserologic Detection and Diagnostic Relevance of Cross-Reactive Autoantibodies in Coronavirus Disease 2019 Patients.
J Infect Dis
; 222(9): 1439-1443, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738141
3.
Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients.
Int J Mol Sci
; 21(18)2020 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933002
4.
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Mov Disord
; 34(10): 1547-1561, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433872
5.
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
J Neurol Neurosurg Psychiatry
; 89(2): 162-168, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889094
6.
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Hum Mol Genet
; 23(3): 749-54, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057670
7.
Upper trunk brachial plexopathy as a consequence of prone positioning due to SARS-CoV-2 acute respiratory distress syndrome.
Muscle Nerve
; 62(5): E76-E78, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875575
8.
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
Mov Disord
; 34(12): 1932-1933, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845766
9.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat
; 34(1): 79-82, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936364
10.
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.
Muscle Nerve
; 48(6): 870-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23512566
11.
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Brain
; 138(Pt 12): e400, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26152333
12.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease. / Registro español de la enfermedad de Pompe: análisis de los primeros 49 pacientes con enfermedad de Pompe del adulto.
Med Clin (Barc)
; 154(3): 80-85, 2020 02 14.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-31253477
13.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.
Med Clin (Barc)
; 153(2): 82.e1-82.e17, 2019 07 19.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-30685181
14.
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
; 5(6): 710-716, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29928654
15.
ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Prog Neurobiol
; 142: 104-129, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236050
16.
Extracellular Volume Detects Amyloidotic Cardiomyopathy and Correlates With Neurological Impairment in Transthyretin-familial Amyloidosis.
Rev Esp Cardiol (Engl Ed)
; 69(10): 923-930, 2016 Oct.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-27291669
17.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Nat Genet
; 48(9): 1037-42, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27455347
18.
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Nat Commun
; 7: 11253, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27080313
19.
Kennedy disease with biphasic clinical course and rapid progression.
J Clin Neuromuscul Dis
; 15(4): 164-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24872216
20.
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Neuron
; 84(2): 324-31, 2014 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25374358