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Showing 1 to 12 of 113 entries
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Waddington, Dynamic Systems, and Epigenetics.

Frontiers in behavioral neuroscience

Tronick E, Hunter RG.
PMID: 27375447
Front Behav Neurosci. 2016 Jun 10;10:107. doi: 10.3389/fnbeh.2016.00107. eCollection 2016.

Waddington coined the term "epigenetic" to attempt to explain the complex, dynamic interactions between the developmental environment and the genome that led to the production of phenotype. Waddington's thoughts on the importance of both adaptability and canalization of phenotypic...

Here Today, Gone Tomorrow? Changes in 4-Month-Olds' Physiologic and Behavioral Responses Do Not Indicate Memory for a Social Stressor.

Frontiers in psychology

DiCorcia JA, Snidman NC, Tronick E.
PMID: 29515477
Front Psychol. 2018 Feb 20;9:128. doi: 10.3389/fpsyg.2018.00128. eCollection 2018.

Although much is known about early memory development, only a few studies have explored infants' memory of social stress. While these few studies suggest that infants can remember stressful interactions, limitations seen in both methodology and statistical analyses give...

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?.

Frontiers in pediatrics

Dalen Meurs-van der Schoor C, van Weissenbruch M, van Kempen M, Bugiani M, Aronica E, Ronner H, Vermeulen RJ.
PMID: 25566516
Front Pediatr. 2014 Dec 19;2:136. doi: 10.3389/fped.2014.00136. eCollection 2014.

BACKGROUND: Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.METHODS: We describe a patient with intractable neonatal seizures who died from respiratory compromise during a...

Prenatal predictors of infant self-regulation: the contributions of placental DNA methylation of NR3C1 and neuroendocrine activity.

Frontiers in behavioral neuroscience

Conradt E, Fei M, LaGasse L, Tronick E, Guerin D, Gorman D, Marsit CJ, Lester BM.
PMID: 26074794
Front Behav Neurosci. 2015 May 29;9:130. doi: 10.3389/fnbeh.2015.00130. eCollection 2015.

We examined whether placental DNA methylation of the glucocorticoid receptor gene, NR3C1 was associated with self-regulation and neuroendocrine responses to a social stressor in infancy. Placenta samples were obtained at birth and mothers and their infants (n = 128)...

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II.

Molecular genetics and metabolism reports

Bik-Multanowski M, Jamroz E, Kaluzny L, Pronicka E, Rokicki D, Starostecka E, Sykut-Cegielska J, Walczak M.
PMID: 27014570
Mol Genet Metab Rep. 2015 Dec 18;6:5-7. doi: 10.1016/j.ymgmr.2015.12.002. eCollection 2016 Mar.

No abstract available.

Olfactory Receptors in Non-Chemosensory Organs: The Nervous System in Health and Disease.

Frontiers in aging neuroscience

Ferrer I, Garcia-Esparcia P, Carmona M, Carro E, Aronica E, Kovacs GG, Grison A, Gustincich S.
PMID: 27458372
Front Aging Neurosci. 2016 Jul 05;8:163. doi: 10.3389/fnagi.2016.00163. eCollection 2016.

Olfactory receptors (ORs) and down-stream functional signaling molecules adenylyl cyclase 3 (AC3), olfactory G protein α subunit (Gαolf), OR transporters receptor transporter proteins 1 and 2 (RTP1 and RTP2), receptor expression enhancing protein 1 (REEP1), and UDP-glucuronosyltransferases (UGTs) are...

Familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature.

Tremor and other hyperkinetic movements (New York, N.Y.)

Sharifi S, Aronica E, Koelman JH, Tijssen MA, Van Rootselaar AF.
PMID: 23439993
Tremor Other Hyperkinet Mov (N Y). 2012;2. doi: 10.7916/D8ST7NKK. Epub 2012 Aug 28.

BACKGROUND: Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch...

Proton MR Spectroscopy in Patients with Leigh Syndrome.

The neuroradiology journal

Jurkiewicz E, Chełstowska S, Pakuła-Kościesza I, Malczyk K, Nowak K, Bekiesińska-Figatowska M, Sykut-Cegielska J, Piekutowska-Abramczuk D, Pronicka E.
PMID: 24059666
Neuroradiol J. 2011 Jun 30;24(3):424-8. doi: 10.1177/197140091102400312. Epub 2011 Jun 24.

The aim of the present study was to evaluate MRS findings in patients with Leigh syndrome. We report our results of HMR spectroscopic studies performed in six patients (aged four months to ten years) with clinically proved Leigh syndrome....

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent .

Oncotarget

Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E.
PMID: 29221145
Oncotarget. 2017 Sep 08;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10.

Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous...

Cannabis in epilepsy: From clinical practice to basic research focusing on the possible role of cannabidivarin.

Epilepsia open

Morano A, Cifelli P, Nencini P, Antonilli L, Fattouch J, Ruffolo G, Roseti C, Aronica E, Limatola C, Di Bonaventura C, Palma E, Giallonardo AT.
PMID: 29588939
Epilepsia Open. 2016 Sep 19;1(3):145-151. doi: 10.1002/epi4.12015. eCollection 2016 Dec.

Cannabidivarin (CBDV) and cannabidiol (CBD) have recently emerged among cannabinoids for their potential antiepileptic properties, as shown in several animal models. We report the case of a patient affected by symptomatic partial epilepsy who used cannabis as self-medication after...

Long-term seizure outcome after epilepsy surgery in patients with mild malformation of cortical development and focal cortical dysplasia.

Epilepsia open

Veersema TJ, Swampillai B, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Mühlebner A, Aronica E, Braun KPJ.
PMID: 30868127
Epilepsia Open. 2018 Dec 13;4(1):170-175. doi: 10.1002/epi4.12289. eCollection 2019 Mar.

Focal cortical dysplasia (FCD) and mild malformation of cortical development (mMCD) are frequent histopathologic diagnoses in patients who undergo surgery for refractory epilepsy. Literature concerning surgical outcome in patients with mMCD, as well as its contrast with FCD, has...

Giant Intrapericardial Myxoma Adjacent to the Left Main Coronary Artery.

Frontiers in oncology

Rudziński PN, Lubiszewska B, Różański J, Michałowska I, Kruk M, Kepka C, Kryczka K, Kurowski A, Grajkowska W, Pronicki M, Demkow M.
PMID: 30524967
Front Oncol. 2018 Nov 21;8:540. doi: 10.3389/fonc.2018.00540. eCollection 2018.

A 62-years-old woman was admitted to the hospital because of chronic cough, expectoration of thick mucus, hoarseness and tightness in the precordial area. Computed Tomography (CT) examination revealed the presence of a giant intrapericardial tumor with the dimensions of...

Showing 1 to 12 of 113 entries