Pons R - Search Results

1

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

Kekou K, Svingou M, Sofocleous C, Mourtzi N, Nitsa E, Konstantinidis G, Youroukos S, Skiadas K, Katsalouli M, Pons R, Papavasiliou A, Kotsalis C, Pavlou E, Evangeliou A, Katsarou E, Voudris K, Dinopoulos A, Vorgia P, Niotakis G, Diamantopoulos N, Nakou I, Koute V, Vartzelis G, Papadimas GK, Papadopoulos C, Tsivgoulis G, Traeger-Synodinos J. Kekou K, et al. Among authors: pons r. J Neuromuscul Dis. 2020;7(3):247-256. doi: 10.3233/JND-190466. J Neuromuscul Dis. 2020. PMID: 32417790 Free PMC article.

2

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.

Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R. Pons R, et al. Mov Disord. 2010 Jun 15;25(8):1086-90. doi: 10.1002/mds.23002. Mov Disord. 2010. PMID: 20198643

3

Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.

Pons R, Cuenca-León E, Miravet E, Pons M, Xaidara A, Youroukos S, Macaya A. Pons R, et al. Among authors: pons m. Eur J Paediatr Neurol. 2012 Jan;16(1):86-9. doi: 10.1016/j.ejpn.2011.09.008. Epub 2011 Oct 1. Eur J Paediatr Neurol. 2012. PMID: 21962874

4

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.

Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R. Pons R, et al. Mov Disord. 2013 Jul;28(8):1058-63. doi: 10.1002/mds.25382. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389938

5

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.

Pons R, Kekou K, Gkika A, Papadimas G, Vogiatzakis N, Svingou M, Papadopooulos C, Nikas I, Dinopoulos A, Youroukos S, Kanavakis E. Pons R, et al. Muscle Nerve. 2017 Jan;55(1):46-50. doi: 10.1002/mus.25190. Epub 2016 Oct 28. Muscle Nerve. 2017. PMID: 27178005

6

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Polymeris AA, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A, Gika AD, Youroukos S, Skouteli E, Santorelli FM, Pons R. Polymeris AA, et al. Among authors: pons r. J Neurol. 2016 Aug;263(8):1604-11. doi: 10.1007/s00415-016-8179-z. Epub 2016 Jun 3. J Neurol. 2016. PMID: 27260292

7

Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.

Pons R, Kekou K, Antonellou R, Svingou M, Kanavakis E, Stefanis L. Pons R, et al. Mov Disord. 2016 Nov;31(11):1753-1754. doi: 10.1002/mds.26807. Epub 2016 Sep 26. Mov Disord. 2016. PMID: 27666733 No abstract available.

8

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features.

Makrygianni EA, Papadimas GK, Vartzelis G, Georgala M, Tzetis M, Poulou M, Kitsiou-Tzeli S, Pons R. Makrygianni EA, et al. Among authors: pons r. Pediatr Neurol. 2017 Feb;67:e5-e6. doi: 10.1016/j.pediatrneurol.2016.11.001. Epub 2016 Nov 21. Pediatr Neurol. 2017. PMID: 28041656 No abstract available.

9

Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril.

Mavrogeni S, Giannakopoulou A, Papavasiliou A, Markousis-Mavrogenis G, Pons R, Karanasios E, Noutsias M, Kolovou G, Papadopoulos G. Mavrogeni S, et al. Among authors: pons r. BMC Cardiovasc Disord. 2017 Jul 24;17(1):197. doi: 10.1186/s12872-017-0627-x. BMC Cardiovasc Disord. 2017. PMID: 28738778 Free PMC article.

10

Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia.

Pons R, Vanezis A, Skouteli H, Papavasiliou A, Tziomaki M, Syrengelas D, Darras N. Pons R, et al. J Child Neurol. 2017 Oct;32(11):936-941. doi: 10.1177/0883073817722451. Epub 2017 Aug 4. J Child Neurol. 2017. PMID: 28776460

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