Interests

We identify novel genes involved in either Primary Microcephaly or in Pain sensing disfunctions in human patients.

Research Focus

Keywords

genetics

primary microcephaly

pain

human

Clinical conditions

Genetic disorders

Hereditary Sensory Autonomic Neuropathies

Recessive Primary Microcephaly

Equipment

Behavioural analysis

Cell culture

Confocal microscopy

Immunohistochemistry

Microscopy

molecular biology techniques (PCR, cloning)

Recombinant protein expression

Collaborators

No collaborators listed

Publications

2011

Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG (2011), “The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.” Am J Hum Genet 88(5):523-35 Details

Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG (2011), “A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.” J Med Genet 48(2):131-5 Details

2010

Kobayashi S, Pinto de Carvalho O, Schultz W (2010), “Adaptation of reward sensitivity in orbitofrontal neurons.” J Neurosci 30(2):534-44 Details

Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG (2010), “WDR62 is associated with the spindle pole and is mutated in human microcephaly.” Nat Genet 42(11):1010-4 Details

2009

Bowsher D, Geoffrey Woods C, Nicholas AK, Carvalho OM, Haggett CE, Tedman B, Mackenzie JM, Crooks D, Mahmood N, Twomey JA, Hann S, Jones D, Wymer JP, Albrecht PJ, Argoff CE, Rice FL (2009), “Absence of pain with hyperhidrosis: a new syndrome where vascular afferents may mediate cutaneous sensation.” Pain 147(1-3):287-98 Details

2002

Elgersma Y, Fedorov NB, Ikonen S, Choi ES, Elgersma M, Carvalho OM, Giese KP, Silva AJ (2002), “Inhibitory autophosphorylation of CaMKII controls PSD association, plasticity, and learning.” Neuron 36(3):493-505 Details

2001

Carvalho OM, Silva AJ, Balleine BW (2001), “Evidence of Selective Learning Deficits on Tests of Pavlovian and Instrumental Conditioning in -CaMKIIT286A Mutant Mice.” . International Journal of Comparative Psychology 14(3-4): 161-174