Works matching IS 00068950 AND DT 2016 AND VI 139 AND IP 3

Results: 37

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Published in:
2016
By:
- Yoon, Grace;
- Delague, Valérie;
- Mégarbané, André;
- Isaya, Grazia
Publication type:
commentary
Reply: Essential tremor in 'The tremulous hand of Worcester': additional comments.
Published in:
2016
By:
- Thorpe, Deborah E;
- Alty, Jane E
Publication type:
commentary
Improved proteostasis in the secretory pathway rescues Alzheimer's disease in the mouse.
Published in:
2016
By:
- Peng, Yajing;
- Kim, Mi Jin;
- Hullinger, Rikki;
- O'Riordan, Kenneth J;
- Burger, Corinna;
- Pehar, Mariana;
- Puglielli, Luigi
Publication type:
journal article
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
Published in:
2016
By:
- Yu-Wai-Man, Patrick;
- Hudson, Gavin;
- Klopstock, Thomas;
- Chinnery, Patrick F
Publication type:
Letter
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Published in:
2016
By:
- Choquet, Karine;
- Zurita-Rendón, Olga;
- La Piana, Roberta;
- Sharon Yang;
- Dicaire, Marie-Joseè;
- Boycott, Kym M.;
- Majewski, Jacek;
- Shoubridge, Eric A.;
- Brais, Bernard;
- Tètreault, Martine;
- Yoon, Grace;
- Delague, Valèrie;
- Mègarbane, Andrè;
- Isaya, Grazia;
- Yang, Sharon;
- Dicaire, Marie-Josée;
- Care4Rare Consortium;
- Tétreault, Martine
Publication type:
Case Study
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
Published in:
2016
By:
- Carelli, Valerio;
- d'Adamo, Pio;
- Valentino, Maria Lucia;
- Morgia, Chiara La;
- Ross-Cisneros, Fred N.;
- Caporali, Leonardo;
- Maresca, Alessandra;
- Polosa, Paola Loguercio;
- Barboni, Piero;
- De Negri, Annamaria;
- Sadun, Federico;
- Karanjia, Rustum;
- Salomao, Solange R.;
- Berezovsky, Adriana;
- Chicani, Filipe;
- Moraes, Milton;
- Filho, Milton Moraes;
- Belfort Jr., Rubens;
- Sadun, Alfredo A.;
- Yu-Wai-Man, Patrick
Publication type:
commentary
Essential tremor in 'The tremulous hand of Worcester': additional comments.
Published in:
2016
By:
- Louis, Elan D.;
- Thorpe, Deborah E.;
- Alty, Jane E.
Publication type:
commentary
MicroRNA-132 and early growth response-1 in nucleus basalis of Meynert during the course of Alzheimer's disease.
Published in:
2016
By:
- Qiong-Bin Zhu;
- Unmehopa, Unga;
- Bossers, Koen;
- Yu-Ting Hu;
- Verwer, Ronald;
- Balesar, Rawien;
- Juan Zhao;
- Ai-Min Bao;
- Swaab, Dick;
- Zhu, Qiong-Bin;
- Hu, Yu-Ting;
- Zhao, Juan;
- Bao, Ai-Min
Publication type:
journal article
Pharmacological targeting of CSF1R inhibits microglial proliferation and prevents the progression of Alzheimer's-like pathology.
Published in:
2016
By:
- Olmos-Alonso, Adrian;
- Schetters, Sjoerd T. T.;
- Sri, Sarmi;
- Askew, Katharine;
- Mancuso, Renzo;
- Vargas-Caballero, Mariana;
- Holscher, Christian;
- Perry, V. Hugh;
- Gomez-Nicola, Diego
Publication type:
journal article
Autism: a spectrum of speculation.
Published in:
Brain: A Journal of Neurology, 2016, v. 139, n. 3, p. 999, doi. 10.1093/brain/awv388
By:
- Tammet, Daniel
Publication type:
Article
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.
Published in:
2016
By:
- Boussicault, Lydie;
- Alves, Sandro;
- Lamazière, Antonin;
- Planques, Anabelle;
- Heck, Nicolas;
- Moumnè, Lara;
- Despres, Gaëtan;
- Bolte, Susanne;
- Hu, Amèlie;
- Pagès, Christiane;
- Galvan, Laurie;
- Piguet, Francoise;
- Aubourg, Patrick;
- Cartier, Nathalie;
- Caboche, Jocelyne;
- Betuing, Sandrine;
- Moumné, Lara;
- Hu, Amélie
Publication type:
journal article
Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease.
Published in:
2016
By:
- Rodriguez-Vieitez, Elena;
- Saint-Aubert, Laure;
- Carter, Stephen F.;
- Almkvist, Ove;
- Farid, Karim;
- Schöll, Michael;
- Chiotis, Konstantinos;
- Thordardottir, Steinunn;
- Graff, Caroline;
- Wall, Anders;
- Långström, Bengt;
- Nordber, Agneta;
- Nordberg, Agneta
Publication type:
journal article
Hidden contexts and invisible power relations: A Foucauldian reading of diversity research.
Published in:
Brain: A Journal of Neurology, 2016, v. 139, n. 3, p. 263, doi. 10.1177/0018726713491772
By:
- Ahonen, Pasi;
- Tienari, Janne;
- Meriläinen, Susan;
- Pullen, Alison
Publication type:
Article
On the right side? A longitudinal study of left- versus right-lateralized semantic dementia.
Published in:
2016
By:
- Kumfor, Fiona;
- Landin-Romero, Ramon;
- Devenney, Emma;
- Hutchings, Rosalind;
- Grasso, Roberto;
- Hodges, John R.;
- Piguet, Olivier
Publication type:
journal article
Mentalizing the body: spatial and social cognition in anosognosia for hemiplegia.
Published in:
2016
By:
- Besharati, Sahba;
- Forkel, Stephanie J.;
- Kopelman, Michael;
- Solms, Mark;
- Jenkinson, Paul M.;
- Fotopoulou, Aikaterini
Publication type:
journal article
GABA transmission via ATP-dependent K+ channels regulates α-synuclein secretion in mouse striatum.
Published in:
2016
By:
- Emmanouilidou, Evangelia;
- Minakaki, Georgia;
- Keramioti, Maria V.;
- Xylaki, Mary;
- Balafas, Evangelos;
- Chrysanthou-Piterou, Margarita;
- Kloukina, Ismini;
- Vekrellis, Kostas
Publication type:
journal article
Brain propagation of transduced α-synuclein involves non-fibrillar protein species and is enhanced in α-synuclein null mice.
Published in:
2016
By:
- Helwig, Michael;
- Klinkenberg, Michael;
- Rusconi, Raffaella;
- Musgrove, Ruth E.;
- Majbour, Nour K.;
- El-Agnaf, Omar M. A.;
- Ulusoy, Ayse;
- Di Monte, Donato A.
Publication type:
journal article
Targeting endoplasmic reticulum acetylation to restore proteostasis in Alzheimer's disease.
Published in:
2016
By:
- Hetz, Claudio;
- Duran-Aniotz, Claudia;
- Cornejo, Victor Hugo
Publication type:
journal article
Hypoxia, a turning point in migraine pathogenesis?
Published in:
2016
By:
- Schoenen, Jean
Publication type:
journal article
When all is lost…a severe myopathy with hypotonia from sodium channel mutations.
Published in:
2016
By:
- Cannon, Stephen C.
Publication type:
journal article
Brain.Editorial.
Published in:
2016
By:
- Kullmann, Dimitri M.
Publication type:
Editorial
Mapping neuroplastic potential in brain-damaged patients.
Published in:
2016
By:
- Herbet, Guillaume;
- Maheu, Maxime;
- Costi, Emanuele;
- Lafargue, Gilles;
- Duffau, Hugues
Publication type:
journal article
Cerebellar atrophy in Parkinson's disease and its implication for network connectivity.
Published in:
2016
By:
- O'Callaghan, Claire;
- Hornberger, Michael;
- Balsters, Joshua H.;
- Halliday, Glenda M.;
- Lewis, Simon J. G.;
- Shine, James M.
Publication type:
journal article
Inflammatory changes in very early Alzheimer's disease: friend, foe, or don't know?
Published in:
2016
By:
- Schott, Jonathan M.;
- Fox, Nick C.
Publication type:
journal article
Longitudinal evidence for anterograde trans-synaptic degeneration after optic neuritis.
Published in:
2016
By:
- Carmen Tur;
- Olivia Goodkin;
- Altmann, Daniel R.;
- Jenkins, Thomas M.;
- Miszkiel, Katherine;
- Mirigliani, Alessia;
- Fini, Camilla;
- Gandini Wheeler-Kingshott, Claudia A. M.;
- Thompson, Alan J.;
- Ciccarelli, Olga;
- Toosy, Ahmed T.;
- Tur, Carmen;
- Goodkin, Olivia
Publication type:
journal article
The topograpy of demyelination and neurodegeneration in the multiple sclerosis brain.
Published in:
2016
By:
- Haider, Lukas;
- Zrzavy, Tobias;
- Hametner, Simon;
- Höftberger, Romana;
- Bagnato, Francesca;
- Grabner, Günther;
- Trattnig, Siegfried;
- Pfeifenbring, Sabine;
- Brück, Wolfgang;
- Lassmann, Hans
Publication type:
journal article
Brain intra- and extracellular sodium concentration in multiple sclerosis: a 7 T MRI study.
Published in:
2016
By:
- Petracca, Maria;
- Vancea, Roxana O.;
- Fleysher, Lazar;
- Jonkman, Laura E.;
- Oesingmann, Niels;
- Inglese, Matilde
Publication type:
journal article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Published in:
2016
By:
- Dallabona, Cristina;
- Abbink, Truus E. M.;
- Carrozzo, Rosalba;
- Torraco, Alessandra;
- Legati, Andrea;
- van Berkel, Carola G. M.;
- Niceta, Marcello;
- Langella, Tiziana;
- Verrigni, Daniela;
- Rizza, Teresa;
- Diodato, Daria;
- Piemonte, Fiorella;
- Lamantea, Eleonora;
- Fang, Mingyan;
- Zhang, Jianguo;
- Martinelli, Diego;
- Bevivino, Elsa;
- Dionisi-Vici, Carlo;
- Vanderver, Adeline;
- Philip, Sunny G.
Publication type:
journal article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Published in:
2016
By:
- Byrne, Susan;
- Jansen, Lara;
- U-King-Im, Jean-Marie;
- Siddiqui, Ata;
- Lidov, Hart G. W.;
- Bodi, Istvan;
- Smith, Luke;
- Mein, Rachael;
- Cullup, Thomas;
- Dionisi-Vici, Carlo;
- Al-Gazali, Lihadh;
- Al-Owain, Mohammed;
- Bruwer, Zandre;
- Al Thihli, Khalid;
- El-Garhy, Rana;
- Flanigan, Kevin M.;
- Manickam, Kandamurugu;
- Zmuda, Erik;
- Banks, Wesley;
- Gershoni-Baruch, Ruth
Publication type:
journal article
Normobaric hyperoxia markedly reduces brain damage and sensorimotor deficits following brief focal ischaemia.
Published in:
2016
By:
- Ejaz, Sohail;
- Emmrich, Julius V.;
- Sitnikov, Sergey L.;
- Hong, Young T.;
- Sawiak, Stephen J.;
- Fryer, Tim D.;
- Aigbirhio, Franklin I.;
- Williamson, David J.;
- Baron, Jean-Claude
Publication type:
journal article
Non-invasive imaging of oxygen extraction fraction in adults with sickle cell anaemia.
Published in:
2016
By:
- Jordan, Lori C.;
- Gindville, Melissa C.;
- Scott, Allison O.;
- Juttukonda, Meher R.;
- Strother, Megan K.;
- Kassim, Adetola A.;
- Sheau-Chiann Chen;
- Hanzhang Lu;
- Pruthi, Sumit;
- Yu Shyr;
- Donahue, Manus J.;
- Chen, Sheau-Chiann;
- Lu, Hanzhang;
- Shyr, Yu
Publication type:
journal article
Migraine induced by hypoxia: an MRI spectroscopy and angiography study.
Published in:
2016
By:
- Arngrim, Nanna;
- Schytz, Henrik Winther;
- Britze, Josefine;
- Amin, Faisal Mohammad;
- Vestergaard, Mark Bitsch;
- Hougaard, Anders;
- Wolfram, Frauke;
- de Koning, Patrick J. H.;
- Olsen, Karsten S.;
- Secher, Niels H.;
- Bo Wiberg Larsson, Henrik;
- Olesen, Jes;
- Ashina, Messoud;
- Larsson, Henrik Bo Wiberg
Publication type:
journal article
Thalamic pain: anatomical and physiological indices of prediction.
Published in:
2016
By:
- Vartiainen, Nuutti;
- Perchet, Caroline;
- Magnin, Michel;
- Creac'h, Christelle;
- Convers, Philippe;
- Nighoghossian, Norbert;
- Mauguière, François;
- Peyron, Roland;
- Garcia-Larrea, Luis
Publication type:
journal article
Spinal cord injury-induced immune deficiency syndrome enhances infection susceptibility dependent on lesion level.
Published in:
2016
By:
- Brommer, Benedikt;
- Engel, Odilo;
- Kopp, Marcel A.;
- Watzlawick, Ralf;
- Müller, Susanne;
- Prüss, Harald;
- Yuying Chen;
- DeVivo, Michael J.;
- Finkenstaedt, Felix W.;
- Dirnagl, Ulrich;
- Liebscher, Thomas;
- Meisel, Andreas;
- Schwab, Jan M.;
- Chen, Yuying
Publication type:
journal article
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Published in:
2016
By:
- Zaharieva, Irina T.;
- Thor, Michael G.;
- Oates, Emily C.;
- Karnebeek, Clara van;
- Hendson, Glenda;
- Blom, Eveline;
- Witting, Nanna;
- Rasmussen, Magnhild;
- Gabbett, Michael T.;
- Ravenscroft, Gianina;
- Sframeli, Maria;
- Suetterlin, Karen;
- Sarkozy, Anna;
- D'Argenzio, Luigi;
- Hartley, Louise;
- Matthews, Emma;
- Pitt, Matthew;
- Vissing, John;
- Ballegaard, Martin;
- Krarup, Christian
Publication type:
journal article
Can physical exercise in old age improve memory and hippocampal function?
Published in:
2016
By:
- Duzel, Emrah;
- van Praag, Henriette;
- Sendtner, Michael
Publication type:
journal article
Immunosenescence of microglia and macrophages: impact on the ageing central nervous system.
Published in:
2016
By:
- Rawji, Khalil S.;
- Mishra, Manoj K.;
- Michaels, Nathan J.;
- Rivest, Serge;
- Stys, Peter K.;
- Yong, V. Wee
Publication type:
journal article