Jimenez-Escrig A - Search Results

1

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A. Jimenez-Escrig A, et al. Muscle Nerve. 2012 Apr;45(4):605-10. doi: 10.1002/mus.22324. Muscle Nerve. 2012. PMID: 22431096

2

[Whole genome sequencing: a qualitative leap forward in genetic studies].

Jiménez-Escrig A, Gobernado I, Sánchez-Herranz A. Jiménez-Escrig A, et al. Rev Neurol. 2012 Jun 1;54(11):692-8. Rev Neurol. 2012. PMID: 22627750 Free article. Review. Spanish.

3

Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis.

Baron M, Gomez-Tortosa E, Bochdanovits Z, Gobernado I, Rabano A, Munoz DG, Heutink P, Jimenez-Escrig A. Baron M, et al. Alzheimer Dis Assoc Disord. 2012 Jan-Mar;26(1):91-5. doi: 10.1097/WAD.0b013e318215aaf4. Alzheimer Dis Assoc Disord. 2012. PMID: 22354140

4

Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A. Gómez-Tortosa E, et al. J Alzheimers Dis. 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292. J Alzheimers Dis. 2010. PMID: 20157243

5

Neurophysiological study in cerebrotendinous xanthomatosis.

Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A. Pilo B, et al. Muscle Nerve. 2011 Apr;43(4):531-6. doi: 10.1002/mus.21905. Muscle Nerve. 2011. PMID: 21404287

6

A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes.

Jimenez-Escrig A, Gomez-Tortosa E, Baron M, Rabano A, Arcos-Burgos M, Palacios LG, Yusta A, Anta P, Perez I, Hierro M, Munoz DG, Barquero S. Jimenez-Escrig A, et al. Brain. 2005 Jul;128(Pt 7):1707-15. doi: 10.1093/brain/awh501. Epub 2005 Apr 20. Brain. 2005. PMID: 15843424

7

[Clinical variability and diagnostic controversies in CADASIL].

García-Barragán N, Fernández-Guarino M, Jiménez-Escrig A. García-Barragán N, et al. Rev Clin Esp. 2007 Apr;207(4):187-9. doi: 10.1157/13101848. Rev Clin Esp. 2007. PMID: 17475182 Spanish.

8

A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family.

Martínez-Ulloa PL, Vallejo M, Corral I, García-Barragán N, Alcazar A, Martínez-Alonso E, Martínez-Poles J, Pian H, Jiménez-Escrig A. Martínez-Ulloa PL, et al. J Peripher Nerv Syst. 2017 Sep;22(3):208-212. doi: 10.1111/jns.12227. Epub 2017 Jul 27. J Peripher Nerv Syst. 2017. PMID: 28646538

9

Clinical and genetical study of a familial form of REM sleep behavior disorder.

Mateo-Montero RC, Pedrera-Mazarro A, Martín-Palomeque G, Del Mar Moreno-Galera M, Valera-Dávila C, Gómez-Ansede A, Braun J, Jiménez-Escrig A. Mateo-Montero RC, et al. Clin Neurol Neurosurg. 2018 Dec;175:130-133. doi: 10.1016/j.clineuro.2018.09.035. Epub 2018 Oct 4. Clin Neurol Neurosurg. 2018. PMID: 30419424

10

Smoking is associated with age at disease onset in Parkinson's disease.

Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M; Spain_PD consortium. Rosas I, et al. Parkinsonism Relat Disord. 2022 Apr;97:79-83. doi: 10.1016/j.parkreldis.2022.03.005. Epub 2022 Mar 24. Parkinsonism Relat Disord. 2022. PMID: 35364453

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