Results 61 to 70 of about 350 (155)

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

A terapia combinada de exercício físico e creatina induz efeito tipo-antidepressivo e aumento de BDNF no hipocampo de camundongos [PDF]

, 2014
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Bioquímica, Florianópolis, 2014.Os tratamentos farmacológicos disponíveis para a depressão demandam semanas para surtir efeito e ...
Oliveira, Ágatha
core  

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency [PDF]

, 2013
Background. Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype–genotype correlation ...
Osaka, H, Soares, G, Salomons, G. S., Waltz, S., Muntau, A C, Mancini, G.M., Schwartz, CE, Munnich, A. (Arnold), van de Kamp, J., Nassogne, M.C. (M.), Jakobs, C, Betsalel, O T, Brouwer, A. de, Munnich, A., Pitelet, G., Sznajer, Y., Lion-Francois, L. (Laurence), Kant, S G, de Brouwer, A., Longo, N., Ounap, K., Anselm, I, Waltz, S, Van Esch, H., Kant, S.G. (Sarina), Schulze, A., Haar, S. von der, Osaka, H., van der Knaap, MS, Betsalel, OT, Meijers-Heijboer, H. E. von der, Ounap, K, Pinard, JM, Abdul-Rahman, O., Meijers-Heijboer, HE, Yaplito-Lee, J. (J.), Ribes, A, Anselm, I. (I.), Vilaseca, M.A., Wamelink, MMC, van der Knaap, M S, Munnich, A, Muntau, Ania Carolina, Maat-Kievit, J A, ter Haar, S (S.), Abulhoul, L., Knaap, M. S. van der, Bratkovic, D. (D.), Salomons, G S, Mancini, G. M., Kamp, J. M. van de, Maat-Kievit, J.A., Campistol, J., Schwartz, C.E., Muntau, A.C. (A.), Brouwer, A.P.M. de, Wamelink, M M C, Azzouz, H, Valongo, C. (C.), Vilaseca, MA, Errami, A. (Abdellatif), Haar, S. van der, Salomons, GS, Quijano-Roy, S. (S.), Grünewald, S. (Sonja), Van Esch, H, Schwartz, C E, Azzouz, H., Nassogne, M. C., Pouwels, P.J.W. (Petra), Monteiro, J. P., Johnson, D. (David), Johnson, D., Quijano-Roy, S, Mercimek-Mahmutoglu, S. (Saadet), Lion-Francois, L., Pinard, J.M., Ribes, A. (A.), Cheillan, D. (David), Kamp, J.M. van de, van de Kamp, J.M. (Jiddeke M.), Johnson, D, Abdul-Rahman, O, Brouwer, A (Annemarie), Poplawski, N. (Nicola), Diogo, L, Betsalel, O.T., van der Knaap, M.S., Pinard, J.M. (J.), Hamel, B., Grünewald, S, Wilcken, B, Frints, S.G.M. (Suzanna), Longo, N. (N.), Sznajer, Y. (Yves), Yaplito-Lee, J, Schwenger, S., Pouwels, P.J., Haar, S., Brouwer, A.P.M. (Arjan) de, de Brouwer, A, D'Hooghe, M. (M.), Frints, S., Mercimek-Mahmutoglu, S, Sznajer, Yves, Poplawski, N., Betsalel, O. T., van de Kamp, J M, Esch, H. van, Schwenger, S. (S.), Garcia, P. (Paula), Lion-Francois, L, Wilcken, B. (Bridget), Kant, SG, Maat-Kievit, JA, Hofstede, F.C. (Floris), Fonseca, M., Poplawski, N, Pinard, J M, Jakobs, C., Ribes, A., Pouwels, P.J.W., Diogo, L., Kleefstra, T., Mercimek-Mahmutoglu, S., Yntema, H.G., Mancini, G.M.S. (Grazia), Hamel, B, Errami, A, Õunap, K. (Katrin), Schwartz, C. E., Monteiro, JP, Monteiro, J.P., Schwenger, S, D'Hooghe, M, Valayannopoulos, V., Fonseca, M, Valayannopoulos, V. (Vassili), Abulhoul, L. (L.), Muntau, A. C., van der Knaap, M. S., Pinard, J. M., Vilaseca, M. A., Bratkovic, D., Abulhoul, L, Fonseca, M. (M.), von der Haar, S., Schulze, A, Pitelet, G. (G.), Hofstede, F., Muntau, A.C., Knaap, M.S. (Marjo) van der, Osaka, H. (H.), Vilaseca, M A, Valongo, C., Hamel, B.C.J., Salomons, G.S., Wamelink, M. M. C., Esch, H. (Hilde) van, Waltz, S. (S.), Hofstede, F, Meijers-Heijboer, H E, Longo, N, Sznajer, Y, Wilcken, B., Verheijen - Mancini, Grazia, Meijers-Heijboer, H.E., Errami, A., Maat-Kievit, J. A., Cheillan, D, Soares, G. (G.), Arias Vasquez, A., Monteiro, J P, Meijers-Heijboer, H. E., Kant, S. G., Quijano-Roy, S., Pouwels, P J W, Diogo, L. (Luisa), Van Esch, Hilde, Jakobs, C.A.J.M., Schulze, A. (A.), Muntau, AC, Meijers-Heijboer, E.J. (Hanne), Betsalel, O.T. (Ofir), Nassogne, MC, Azzouz, H. (H.), D'Hooghe, M., von der Haar, S, Nassogne, M.C., Wamelink, M.M.C., Frints, S, Hamel, B.C. (Ben), Monteiro, J.P. (J.), Arias Pérez, J.I. (José Ignacio), van de Kamp, J.M., Soares, G., Pouwels, PJW, Kleefstra, T, Valayannopoulos, V, van de Kamp, J. M., Maat-Kievit, A.A. (Anneke), Valongo, C, Arias, A, Mancini, G M, Hooghe, M. D', Pouwels, P.JW., Garcia, P, Cheillan, D., Pitelet, G, Campistol, J, Grünewald, S., Knaap, M.S. van der, Mancini, G.M.S., Kleefstra, T. (Tjitske), Abdul-Rahman, O.A. (Omar), Wamelink, M.M., Poggenburg, I., Wamelink, M.MC., Gruenewald, S., Wamelink, M.M.C. (Mirjam), Nassogne, Marie-Cécile, Abdul-Rahman, O.A., Vilaseca, M.A. (M.), Garcia, P., Arias, A., Poggenburg, I, van de Kamp, JM, Yntema, H., Jakobs, C. (Cornelis), Anselm, I., Pouwels, P. J. W., Poggenburg, I. (I.), Yaplito-Lee, J., Kant, S.G., Salomons, G.S. (Gajja), Bratkovic, D, Campistol, J.M., Yntema, H, Haar, S. (Sigrun) von der   +238 more
core   +1 more source

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Molecular Genetics & Genomic Medicine, 2020
Background Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians.
Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel   +7 more
doaj   +1 more source

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation [PDF]

Clinical Genetics, 2005
Contains fulltext : 47949.pdf (Publisher’s version ) (Open Access)
Kleefstra, T., Rosenberg, E.H., Salomons, G.S., Stroink, H., Bokhoven, J.H.L.M. van, Hamel, B.C.J., Vries, L.B.A. de   +6 more
openaire   +4 more sources

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency

, 2020
l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies.
Chi-un Choe, Tanja Zeller, Edzard Schwedhelm, Christian Gerloff, Mathias Gelderblom, Märit Jensen, Christian Müller, Priyadharshini Arunachalam, Tim Magnus   +8 more
core   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source