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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

When all is lost…a severe myopathy with hypotonia from sodium channel mutations.

Published in:

2016

By:

Cannon, Stephen C.

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

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

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

Hypoxia, a turning point in migraine pathogenesis?

Published in:

2016

By:

Schoenen, Jean

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

Brain.Editorial.

Published in:

2016

By:

Kullmann, Dimitri M.

Publication type:

Editorial