Detalles de la búsqueda
1.
Efficacy and safety of exogenous beta-hydroxybutyrate for preventive treatment in episodic migraine: A single-centred, randomised, placebo-controlled, double-blind crossover trial.
Cephalalgia
; 42(4-5): 302-311, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34541914
2.
Spinal cord gray matter atrophy is associated with functional decline in post-polio syndrome.
Eur J Neurol
; 29(5): 1435-1445, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35102676
3.
Stable-Isotope Dilution GC-MS Measurement of Metformin in Human Serum and Urine after Derivatization with Pentafluoropropionic Anhydride and Its Application in Becker Muscular Dystrophy Patients Administered with Metformin, l-Citrulline, or Their Combination.
Molecules
; 27(12)2022 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35744973
4.
Effects of Long-Term Exposure of Intermediate Frequency Magnetic Fields (20 kHz, 360 µT) on the Development, Pathological Findings, and Behavior of Female Mice.
Bioelectromagnetics
; 42(4): 309-316, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33822410
5.
Longitudinal reliability of outcome measures in patients with Duchenne muscular dystrophy.
Muscle Nerve
; 61(1): 63-68, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31469921
6.
Effects of single and combined metformin and L-citrulline supplementation on L-arginine-related pathways in Becker muscular dystrophy patients: possible biochemical and clinical implications.
Amino Acids
; 50(10): 1391-1406, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30003335
7.
Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial).
Eur Radiol
; 28(11): 4488-4495, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-29713776
8.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
J Neurochem
; 143(5): 507-522, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28902413
9.
Recent developments in muscle imaging of neuromuscular disorders.
Curr Opin Neurol
; 29(5): 614-20, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27427989
10.
Nerve ultrasound in Miller Fisher variant of Guillain-Barré syndrome.
Muscle Nerve
; 52(6): 1106-10, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26123539
11.
Longitudinal 2-point dixon muscle magnetic resonance imaging in becker muscular dystrophy.
Muscle Nerve
; 51(6): 918-21, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25736228
12.
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
BMC Neurol
; 15: 182, 2015 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26444858
13.
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
Eur J Pediatr
; 173(12): 1691-4, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24706162
14.
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam.
J Neurol
; 2024 May 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38733387
15.
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
Hum Mol Genet
; 20(3): 589-600, 2011 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21088110
16.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Am J Hum Genet
; 86(3): 343-52, 2010 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-20170900
17.
Defining metabolic migraine with a distinct subgroup of patients with suboptimal inflammatory and metabolic markers.
Sci Rep
; 13(1): 3787, 2023 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36882474
18.
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Neurol Ther
; 12(2): 543-557, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36780114
19.
Metabolic markers of short and long-term exogenous DL-beta-hydroxybutyrate supplementation in episodic migraine patients: an exploratory analysis of a randomized-controlled-trial.
Front Pharmacol
; 14: 1172483, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37214431
20.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet Neurol
; 22(10): 890-899, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37739572