J Andoni Urtizberea
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Explore the profile of J Andoni Urtizberea including associated specialties, affiliations and a list of published articles.
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49
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982
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Recent Articles
1.
Babaee M, Urtizberea J, Fatehi F, Rayegani S
Iran J Child Neurol
. 2023 Dec;
17(4):9-22.
PMID: 38074933
The etiology of polyneuropathies varies in the pediatric population, where hereditary or metabolic disorders are far more common than in adults. However, treatable polyneuropathies, also prevalent in these settings, are...
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3.
Urtizberea J, Severa G, Ropars J, Malfatti E
Med Sci (Paris)
. 2023 Nov;
39 Hors série n° 1:37-46.
PMID: 37975769
The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined with bone and cartilage abnormalities. Following an autosomal recessive mode of inheritance, its prevalence...
4.
Diaz-Manera J, Urtizberea J, Schey C, Kole A, von Gallwitz P, Whiting A, et al.
Neuromuscul Disord
. 2023 Jan;
33(2):208-217.
PMID: 36706619
Although mexiletine effectively treats myotonia, supply disruptions affected Europe between 2008-2018. MyoPath was a mixed-methods, cross-sectional, market research survey conducted January-June 2018 to evaluate consequences of limited access to/awareness of...
5.
Urtizberea J, Malfatti E, Carlier P
Med Sci (Paris)
. 2023 Jan;
38 Hors série n° 1:49-51.
PMID: 36649638
The second edition of the Baltic School of Neuromyology took place on August 26-27, 2022 in Riga (Latvia), in a somewhat peculiar atmosphere given the international situation. An opportunity for...
6.
Urtizberea J
Med Sci (Paris)
. 2023 Jan;
38 Hors série n° 1:5.
PMID: 36649627
No abstract available.
7.
Gromand M, Gueguen P, Perville A, Ferroul F, Morel G, Harouna A, et al.
Eur J Med Genet
. 2022 Aug;
65(10):104598.
PMID: 36030003
The Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and...
8.
Cerino M, Gonzalez-Hormazabal P, Abaji M, Courrier S, Puppo F, Mathieu Y, et al.
Genes (Basel)
. 2022 Jun;
13(6).
PMID: 35741838
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We...
9.
Nouioua S, Malfatti E, Gianina R, Hellal S, Meriem T, Urtizberea J
Med Sci (Paris)
. 2021 Dec;
37 Hors série n° 1:50-52.
PMID: 34878399
No abstract available.
10.
Lemoine M, Gomez M, Grimaldi L, Urtizberea J, Quijano-Roy S
Med Sci (Paris)
. 2021 Dec;
37 Hors série n° 1:25-29.
PMID: 34878390
Spinal muscular atrophy is a debilitating neuromuscular disease due to the deletion of the SMN1 gene (SMA). The emergence of innovative targeted therapies changed the natural history of this condition....