Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology.
2024 Apr 9;102(7):e209174. doi: 10.1212/WNL.0000000000209174. Epub 2024 Mar 21. PubMed PMID:
38513194.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain.
2024 Mar 25;. doi: 10.1093/brain/awae091. [Epub ahead of print] PubMed PMID:
38527963.
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Neurologia (Engl Ed).
2024 Mar 1;. doi: 10.1016/j.nrleng.2024.02.008. [Epub ahead of print] PubMed PMID:
38431252.
Functional neurological symptoms as initial presentation of Creutzfeldt-Jakob disease: case series.
J Neurol.
2023 Feb;270(2):1141-1146. doi: 10.1007/s00415-022-11376-5. Epub 2022 Sep 30. PubMed PMID:
36175672.
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Eur J Neurol.
2023 Feb;30(2):399-412. doi: 10.1111/ene.15613. Epub 2022 Nov 18. PubMed PMID:
36303290; PubMed Central PMCID:
PMC9874570.
Tardive myoclonic focal seizures after electroconvulsive therapy, lithium and bupropion treatment.
Epileptic Disord.
2022 Dec 1;24(6):1120-1123. doi: 10.1684/epd.2022.1483. PubMed PMID:
35989587.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet.
2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. PubMed PMID:
36055214; PubMed Central PMCID:
PMC9502063.
COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study.
Neurology.
2022 Apr 5;98(14):576-582. doi: 10.1212/WNL.0000000000200240. Epub 2022 Feb 21. PubMed PMID:
35190464; PubMed Central PMCID:
PMC8992603.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Genes (Basel).
2021 Oct 9;12(10). doi: 10.3390/genes12101590. PubMed PMID:
34680984; PubMed Central PMCID:
PMC8535857.
Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry.
J Neurol Sci.
2021 Apr 15;423:117283. doi: 10.1016/j.jns.2020.117283. Epub 2020 Dec 19. PubMed PMID:
33636661; PubMed Central PMCID:
PMC7749644.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep.
2021 Mar;48(3):2093-2104. doi: 10.1007/s11033-021-06188-1. Epub 2021 Mar 19. PubMed PMID:
33742325.
Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial.
Neurology.
2021 Feb 9;96(6):e853-e865. doi: 10.1212/WNL.0000000000011108. Epub 2020 Nov 20. PubMed PMID:
33219142; PubMed Central PMCID:
PMC8105899.
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Lancet Neurol.
2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. PubMed PMID:
33212063.
Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis.
Neurologia (Engl Ed).
2020 Nov-Dec;35(9):692-694. doi: 10.1016/j.nrl.2019.11.007. Epub 2020 Jan 28. PubMed PMID:
32005531.
Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain.
Neurologia (Engl Ed).
2020 Sep 4;. doi: 10.1016/j.nrl.2020.06.009. [Epub ahead of print] PubMed PMID:
32896462.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet.
2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. PubMed PMID:
32738225; PubMed Central PMCID:
PMC7413890.
Paroxysmal headache with extracephalic irradiation: Proposal for a new variant of epicrania fugax in a series of five patients.
Cephalalgia.
2020 Aug;40(9):959-965. doi: 10.1177/0333102420920646. Epub 2020 Apr 15. PubMed PMID:
32295401.
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant.
Neurol Genet.
2020 Apr;6(2):e413. doi: 10.1212/NXG.0000000000000413. eCollection 2020 Apr. PubMed PMID:
32337339; PubMed Central PMCID:
PMC7164964.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Neurol Genet.
2020 Feb;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. PubMed PMID:
32042910; PubMed Central PMCID:
PMC6984135.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain.
2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. PubMed PMID:
32040566; PubMed Central PMCID:
PMC7009469.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet.
2019 Dec;138(11-12):1313-1322. doi: 10.1007/s00439-019-02075-9. Epub 2019 Oct 31. PubMed PMID:
31673819; PubMed Central PMCID:
PMC6874639.
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Neurol Genet.
2019 Apr;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr. PubMed PMID:
31119193; PubMed Central PMCID:
PMC6501639.
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Neuromuscul Disord.
2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29. PubMed PMID:
30385095; PubMed Central PMCID:
PMC6302219.
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
J Peripher Nerv Syst.
2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11. PubMed PMID:
28834584; PubMed Central PMCID:
PMC5763335.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain.
2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231. PubMed PMID:
29053833; PubMed Central PMCID:
PMC5808726.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry.
2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. PubMed PMID:
28501821; PubMed Central PMCID:
PMC5580821.
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Neurol Genet.
2017 Jun;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun. PubMed PMID:
28508084; PubMed Central PMCID:
PMC5413961.
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Neurology.
2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10. PubMed PMID:
28283593; PubMed Central PMCID:
PMC5386440.
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
Neurogenetics.
2017 Jan;18(1):63-67. doi: 10.1007/s10048-016-0505-1. Epub 2016 Dec 22. PubMed PMID:
28005197.
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Neurology.
2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Review. PubMed PMID:
27629094; PubMed Central PMCID:
PMC5067545.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Am J Hum Genet.
2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31. PubMed PMID:
27040688; PubMed Central PMCID:
PMC4833435.
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.
J Neurol.
2015 Aug;262(8):1984-6. doi: 10.1007/s00415-015-7851-z. Epub 2015 Jul 21. PubMed PMID:
26194197.
Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II alleles.
Neurol Neuroimmunol Neuroinflamm.
2014 Dec;1(4):e47. doi: 10.1212/NXI.0000000000000047. eCollection 2014 Dec. PubMed PMID:
25520955; PubMed Central PMCID:
PMC4268037.
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Brain.
2014 Dec;137(Pt 12):3200-12. doi: 10.1093/brain/awu279. Epub 2014 Oct 3. PubMed PMID:
25281868; PubMed Central PMCID:
PMC4240292.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet.
2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. PubMed PMID:
25439726; PubMed Central PMCID:
PMC4225647.
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Neurology.
2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. PubMed PMID:
25008398; PubMed Central PMCID:
PMC4141994.
Clinical impact of early brain atrophy in clinically isolated syndromes.
Mult Scler.
2013 Dec;19(14):1878-86. doi: 10.1177/1352458513488231. Epub 2013 May 7. PubMed PMID:
23652215.
Early brain pseudoatrophy while on natalizumab therapy is due to white matter volume changes.
Mult Scler.
2013 Aug;19(9):1175-81. doi: 10.1177/1352458512473190. Epub 2013 Jan 14. PubMed PMID:
23319072.
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology.
2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20. PubMed PMID:
23516313; PubMed Central PMCID:
PMC3662361.
Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis.
Mult Scler.
2012 Jul;18(7):983-90. doi: 10.1177/1352458511433063. Epub 2011 Dec 19. PubMed PMID:
22183936.
Value of NMO-IgG determination at the time of presentation as CIS.
Neurology.
2012 May 15;78(20):1608-11. doi: 10.1212/WNL.0b013e3182563b32. Epub 2012 May 2. PubMed PMID:
22551725.
Natalizumab for relapsing-remitting multiple sclerosis.
Neurologia.
2011 Jul-Aug;26(6):357-68. doi: 10.1016/j.nrl.2010.10.004. Epub 2010 Dec 28. Review. PubMed PMID:
21193250.
Ketanserin potentiates morphine-induced antinociception mediated by kappa-receptor activation.
Pharmacol Res.
2011 Jul;64(1):80-4. doi: 10.1016/j.phrs.2011.02.009. Epub 2011 Mar 21. PubMed PMID:
21420495.
An observational study of the effectiveness and safety of natalizumab in the treatment of multiple sclerosis.
Rev Neurol.
2011 Mar 16;52(6):321-30. PubMed PMID:
21387248.
Brainstem lesions in clinically isolated syndromes.
Neurology.
2010 Nov 23;75(21):1933-8. doi: 10.1212/WNL.0b013e3181feb26f. PubMed PMID:
21098409.
[Demyelinating lesions as incidental findings in magnetic resonance imaging: a study of 11 cases with clinico-radiological follow-up and a review of the literature].
Rev Neurol.
2010 Aug;51(3):129-34. PubMed PMID:
20645263.
Drug-induced speech dysfluency and myoclonus preceding generalized tonic-clonic seizures in an adolescent male with schizophrenia.
J Child Adolesc Psychopharmacol.
2010 Jun;20(3):233-4. doi: 10.1089/cap.2009.0010. PubMed PMID:
20578939.
Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation.
J Neurol Sci.
2010 May 15;292(1-2):99-100. doi: 10.1016/j.jns.2010.02.019. Epub 2010 Mar 16. PubMed PMID:
20236665.
Clinical features of CIS of the brainstem/cerebellum of the kind seen in MS.
J Neurol.
2010 May;257(5):742-6. doi: 10.1007/s00415-009-5403-0. Epub 2009 Nov 28. PubMed PMID:
19946780.
Fingolimod for relapsing multiple sclerosis: an update.
Expert Opin Pharmacother.
2010 May;11(7):1183-96. doi: 10.1517/14656561003769866. Review. PubMed PMID:
20367536.
What would you like to do?