Page 195 - MemoriaER-Eng

www.ciberer.es

• s-F e, c e, b c, G J, c ai, d M, e J, c e,
Most relevant ánchezerrerootoeetzáMezoraoíazstebandel astillo
Moris G, inFante J, Menendez M, Pascual-Pascual si, lóPez de Munain a, García-barcina MJ,
scientific a V; Genetics of Spastic Paraplegia study group. “ SPG7 mutational screening
lVarez
articles
in spastic paraplegia patients supports a dominant effect for some mutations and a

pathogenic role for p.A510V”. Clin Genet 2013 Mar; 85(3): 252-262.

• Flaquer a, bauMbach c, Piñero e, García alGas F, de la Fuente sanchez Ma, rosell J; to-
quero J, alonso-PuilPon l, García –PaVia P, strauch k, heine suñer d. “ Genome-wide

linkage analysis of congenitla heart defects using MOD score analysis identifies two
novel loci”. BMC Genet 2013 May 24; 14:44. Doi: 10.1186/1471-2156-14-44.

• a-e l, b Ma, c Ml, l s, J, V i, a F, b J,
ldáMizcheVarriauenoouceaGedalMau itoriandradelasco
alcalde c, Gil d, García Mc, González laMuño d, ruiz M, Peña-quintana l, ruiz Ma, Gon-
d, s-V F. “Anthropometric characteristics and nutrition ina cohort
zález ánchezalVerde
of PAH-deficient patients”. Clin Nutr 2013 Sep 26. pii: S0261-5614 (13)00249-5.
Doi: 10.1016/j.clnu.2013.09.011.

• suarez-calVet M, dols-icardo o, lladó a, sanchez-Valle r, hernández i, aMer G, antón-
aGuirre s, alcolea d, Fortea J, Ferrer i, Van der zee J, dillen l, Van broeckhoVen c,

MolinueVo Jl, blesa r, clariMón J, lleó a. “Plasma phosphorylated TDP-43 levels are
elevated in patients with frontotemporal dementia carrying repeat expansión or a

GRN mutation”. J Neurol Neurosurg Psychiatry, 2013 Dec 4. Doi: 10.1136/jnnp-
2013-305972.
è

The GCV achieved to pass the evaluation of the Health Research Foundation of
Highlights
the Balearic Islands (FISIB) as Consolidated Research Group (PI: Jordi Rosell ) in

August 2013.

The course “Gentica Avui” held in March by Genetics Unit was a great success
with a great number of participants.

The highlight in 2013 of the GCV :

Today we are in the final validation of the study of 69 adult patients, which were

hospitalized in a public daycare and never have been examined from a genetically
point of view. The study by aCGH was diagnostic in 10% of the patients, and was

normal in 50% (34 patients). Two patients more were diagnosed by FISH and mo-

lecular methods of del22q11 and Cornelia de Lange syndromes. In the remaining
patients we detected VOUS and are now in the phase of family study and final

validation.

It has continued the pilot carrier of Fragile X syndrome study with preliminary re-

sults which may lead to changes in diagnostic methodology in this disease. In the
ambit of this disease, the University Hospital Espases has launched the Multidisci-

plinary Clinical Monitoring Unit of patients with Fragile X syndrome.

The Metabolic Neurology group participates in the development of therapeutic 13
guide in Mucopolysaccharidosis type I and the Neuropediatric group in the epi- 20
T
demiological study to assess the severity of RSV infection in patients with severe OR
P
neurological disease ( SENEP -EPI - 2013-01 ) .
RE
L
It has also awared our group with a FIS project (PI: Damia Heine): “Determina- A
tion of the genetic and molecular basis of congenital heart defects through family NU
N
studies and animal models”
A
R /
E
ER
B
CI

195