Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 85

1.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ.

Neurologia. 2019 May 15. pii: S0213-4853(19)30050-7. doi: 10.1016/j.nrl.2019.01.004. [Epub ahead of print] English, Spanish.

2.

A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia.

Ortega-Suero G, Fernández-Matarrubia M, López-Valdés E, Arpa J.

Mov Disord Clin Pract. 2018 Nov 12;6(2):171-173. doi: 10.1002/mdc3.12699. eCollection 2019 Feb. No abstract available.

3.

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements.

Tanguy Melac A, Mariotti C, Filipovic Pierucci A, Giunti P, Arpa J, Boesch S, Klopstock T, Müller Vom Hagen J, Klockgether T, Bürk K, Schulz JB, Reetz K, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS group.

J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26.

PMID:
29279305
4.

Accelerated atherosclerosis in ANCA-associated vasculitis.

González-Suárez I, Ríos-Blanco JJ, Arpa J.

Acta Neurol Scand. 2017 Dec;136(6):688-693. doi: 10.1111/ane.12787. Epub 2017 Jun 12.

PMID:
28608454
5.

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

Cacheiro P, Ordóñez-Ugalde A, Quintáns B, Piñeiro-Hermida S, Amigo J, García-Murias M, Pascual-Pascual SI, Grandas F, Arpa J, Carracedo A, Sobrido MJ.

Mol Diagn Ther. 2017 Jun;21(3):303-313. doi: 10.1007/s40291-017-0268-x.

PMID:
28290094
6.

Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit.

Pulido-Valdeolivas I, Gómez-Andrés D, Sanz-Gallego I, Rausell E, Arpa J.

Cerebellum Ataxias. 2016 Feb 23;3:4. doi: 10.1186/s40673-016-0042-6. eCollection 2016.

7.

Brain Microvasculature Involvement in ANCA Positive Vasculitis.

González-Suárez I, Arpa J, Ríos-Blanco JJ.

Cerebrovasc Dis. 2016;41(5-6):313-21. doi: 10.1159/000443750. Epub 2016 Feb 18.

PMID:
26886083
8.

Long-term outcomes of adult chronic idiopathic hydrocephalus treated with a ventriculo-peritoneal shunt.

Illán-Gala I, Pérez-Lucas J, Martín-Montes A, Máñez-Miró J, Arpa J, Ruiz-Ares G.

Neurologia. 2017 May;32(4):205-212. doi: 10.1016/j.nrl.2015.10.002. Epub 2015 Dec 31. English, Spanish.

9.

Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies.

Ariño H, Höftberger R, Gresa-Arribas N, Martínez-Hernández E, Armangue T, Kruer MC, Arpa J, Domingo J, Rojc B, Bataller L, Saiz A, Dalmau J, Graus F.

JAMA Neurol. 2015 Aug;72(8):874-81. doi: 10.1001/jamaneurol.2015.0749.

10.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23.

PMID:
25998610
11.

Substantia nigra echogenicity in hereditary ataxias with and without nigrostriatal pathology: a pilot study.

Martínez-Sánchez P, Cazorla-García R, Sanz-Gallego I, Correas-Callero E, Pulido-Valdeolivas I, Arpa J.

Cerebellum. 2015 Jun;14(3):240-6. doi: 10.1007/s12311-014-0642-8.

PMID:
25592070
12.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB.

Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5.

PMID:
25566998
13.

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

J Neuromuscul Dis. 2015;2(s1):S42. No abstract available.

PMID:
27858636
14.

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Pandolfo M, Arpa J, Delatycki MB, Le Quan Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F.

Ann Neurol. 2014 Oct;76(4):509-21. doi: 10.1002/ana.24248. Epub 2014 Aug 30.

PMID:
25112865
15.

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Calpena E, Martínez-Rubio D, Arpa J, García-Peñas JJ, Montaner D, Dopazo J, Palau F, Espinós C.

Neuromuscul Disord. 2014 Aug;24(8):660-5. doi: 10.1016/j.nmd.2014.04.004. Epub 2014 May 9.

PMID:
24878226
16.

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial.

Sanz-Gallego I, Rodriguez-de-Rivera FJ, Pulido I, Torres-Aleman I, Arpa J.

Cerebellum Ataxias. 2014 Oct 2;1:13. doi: 10.1186/s40673-014-0013-8. eCollection 2014.

17.

IGF-1 in Friedreich's Ataxia - proof-of-concept trial.

Sanz-Gallego I, Torres-Aleman I, Arpa J.

Cerebellum Ataxias. 2014 Jul 4;1:10. doi: 10.1186/2053-8871-1-10. eCollection 2014.

18.

Leukoencephalopathy due to oral methotrexate.

González-Suárez I, Aguilar-Amat MJ, Trigueros M, Borobia AM, Cruz A, Arpa J.

Cerebellum. 2014 Feb;13(1):178-83. doi: 10.1007/s12311-013-0528-1.

PMID:
24068485
19.

Guillain-Barré syndrome: natural history and prognostic factors: a retrospective review of 106 cases.

González-Suárez I, Sanz-Gallego I, Rodríguez de Rivera FJ, Arpa J.

BMC Neurol. 2013 Jul 22;13:95. doi: 10.1186/1471-2377-13-95.

20.

Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

Arpa J, Sanz-Gallego I, Rodríguez-de-Rivera FJ, Domínguez-Melcón FJ, Prefasi D, Oliva-Navarro J, Moreno-Yangüela M.

Acta Neurol Scand. 2014 Jan;129(1):32-40. doi: 10.1111/ane.12141. Epub 2013 May 14.

PMID:
23668357

Supplemental Content

Loading ...
Support Center