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• G-i P, M b, b J. Role of Thyroid Hormone Receptor Subtypes α and β on
Most relevant ilbañezorteernal
Gene Expression in the Cerebral Cortex and Striatum of Postnatal Mice. Endocrinology
scientific 154: 1940-1947, 2013.

articles
• Ferrara aM, liao Xh, Gil-ibáñez P, MarcinkoWski t, bernal J, Weiss re, duMitrescu aM,
reFetoFF s. Changes in thyroid status during perinatal development of MCT8-deficient

male mice. Endocrinology. 154:2533-41, 2013.

• bernal J, Morte b. Thyroid hormone receptor activity in the absence of ligand: Physiolo-
gical and developmental implications. Biochim Biophys Acta. 1830: 3893-3899, 2013.

• r, t.b., c, a., G-M, c. n, b., r, s., c, s., M-
odriGueseballosriJotaartínezúñezeFetoFFerdánor
te, b., bernal, J.: Increased oxidative metabolism and meurotransmitter cycling in
the brain of mice lacking the thyroid hormone transporter Slc16a2 (Mct8). PLOS One

8(10): e74621, 2013.

• d. naVarro, M. alVarado, b. Morte, d. berbel, J. sesMa, P. Pacheco, G. Morreale de escobar,

J. bernal and P. berbel. Late maternal hypothyroidism alters the expression of Camk4
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2013 May 24. [Epub ahead of print].

Highlights
Our group has participated in the E-RARE 2013 call together with groups from
Germany and Israel with the project “ALLAN-HERNDON-DUDLEY SYNDROME:

MECHANISMS OF DISEASE AND THERAPEUTIC APPROACHES IN MODEL ORGA-
NISMS” which was finally selected to be financed for three years between June

2014 to June 2017. Among the projects we have also to remark one from the

Mehuer Foundation on Orphan Drugs and Rare Diseases entitled “PRECLINICAL
STUDIES ON THE EFECTIVENESS OF THE THYROID HORMONE ANALOG TRIAC

AS A TREATMENT OF ALLAN-HERNDON-DUDLEY SYNDROME”. Among the more

relevant results from our group are those related to the study of the pathology of
Allan-Herndon-Dudley syndrome, in collaboration with groups from Chicago, Is-

rael and Australia. In this study we analyzed brain samples from necropsies, and
is the first study on the pathology of the syndrome. We describe specific structural

alterations of the cerebral cortex and cerebellum in a 30-week fetus and an 11

year old child.

We have continued to distribute our clinical guide to diagnose the syndrome, for
example qith a seminar at the Sant Joan de Deu, Barcelona, which permitted the

diagnosis of additional cases in our country. Among the invited lectures, we select

those given in meetings organized by affected families in Los Angeles, USA, on
January 2013 and again in 2014, the opening lecture on Resistance to Thyroid

Hormones, a course organized by the Spanish Society of Endocrinology and Lilly
laboratories, November 2013. Samuel Refetoff, Professor of the University of Chi-

cago spent a 15 day stay in our lab under the Fulbright Professor program. During
13
his visit, we organized with the collaboration of the CIBERER a clinical session at 20
the Hospital La Paz.
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