Works matching IS 00068950 AND DT 2017 AND VI 140 AND IP 10

Results: 28

PRUNE1: a disease-causing gene for secondary microcephaly.

Published in:

2017

By:

Karakaya, Mert;
Yilmaz, Sanem;
Storbeck, Markus;
Hoelker, Irmgard;
Heller, Raoul;
Serdaroglu, Gül;
Gökben, Sarenur;
Yis, Uluc;
Wirth, Brunhilde

Publication type:

Letter

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Published in:

2017

By:

Karakaya, Mert;
Mazaheri, Neda;
Polat, Ipek;
Bharucha-Goebel, Diana;
Donkervoort, Sandra;
Maroofian, Reza;
Shariati, Gholamreza;
Hoelker, Irmgard;
Monaghan, Kristin;
Winchester, Sara;
Zori, Robert;
Galehdari, Hamid;
Bönnemann, Carsten G.;
Yis, Uluc;
Wirth, Brunhilde

Publication type:

Letter

Reply: On assessing neurofeedback effects: should double-blind replace neurophysiological mechanisms?

Published in:

2017

By:

Schabus, Manuel

Publication type:

Letter

On assessing neurofeedback effects: should double-blind replace neurophysiological mechanisms?

Published in:

2017

By:

Fovet, Thomas;
Micoulaud-Franchi, Jean-Arthur;
Vialatte, François-Benoît;
Lotte, Fabien;
Daudet, Christophe;
Batail, Jean-Marie;
Mattout, Jérémie;
Wood, Guilherme;
Jardri, Renaud;
Enriquez-Geppert, Stefanie;
Ros, Tomas

Publication type:

Letter

Reply: PRUNE1: a disease-causing gene for secondary microcephaly.

Published in:

2017

By:

Baple, Emma L.;
Houlden, Henry;
Zollo, Massimo;
Crosby, Andrew H.

Publication type:

Letter

A singular person with multiple interests.

Published in:

2017

By:

Gardner-Thorpe, Christopher

Publication type:

Book Review

Reconnecting with Joseph and Augusta Dejerine: 100 years on.

Published in:

2017

By:

Bajada, Claude J.;
Banks, Briony;
Lambon Ralph, Matthew A.;
Cloutman, Lauren L.

Publication type:

journal article

Distinct spatiotemporal patterns of neuronal functional connectivity in primary progressive aphasia variants.

Published in:

2017

By:

Ranasinghe, Kamalini G.;
Hinkley, Leighton B.;
Beagle, Alexander J.;
Mizuiri, Danielle;
Honma, Susanne M.;
Welch, Ariane E.;
Hubbard, Isabel;
Mandelli, Maria Luisa;
Miller, Zachary A.;
Garrett, Coleman;
La, Alice;
Boxer, Adam L.;
Houde, John F.;
Miller, Bruce L.;
Vossel, Keith A.;
Gorno-Tempini, Maria Luisa;
Nagarajan, Srikantan S.

Publication type:

journal article

A ventral glomerular deficit in Parkinson's disease revealed by whole olfactory bulb reconstruction.

Published in:

2017

By:

Zapiec, Bolek;
Dieriks, Birger V.;
Tan, Sheryl;
Faull, Richard L. M.;
Mombaerts, Peter;
Curtis, Maurice A.

Publication type:

journal article

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Published in:

2017

By:

Migdalska-Richards, Anna;
Wegrzynowicz, Michal;
Rusconi, Raffaella;
Deangeli, Giulio;
Di Monte, Donato A.;
Spillantini, Maria G.;
Schapira, Anthony H. V.

Publication type:

journal article

Glymphatic MRI in idiopathic normal pressure hydrocephalus.

Published in:

2017

By:

Ringstad, Geir;
Svein Are Sirirud Vatnehol;
Eide, Per Kristian;
Vatnehol, Svein Are Sirirud

Publication type:

journal article

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Published in:

2017

By:

Cavallin, Mara;
Rujano, Maria A.;
Bednarek, Nathalie;
Medina-Cano, Daniel;
Bernabe Gelot, Antoinette;
Drunat, Severine;
Maillard, Camille;
Garfa-Traore, Meriem;
Bole, Christine;
Nitschké, Patrick;
Beneteau, Claire;
Besnard, Thomas;
Cogné, Benjamin;
Eveillard, Marion;
Kuster, Alice;
Poirier, Karine;
Verloes, Alain;
Martinovic, Jelena;
Bidat, Laurent;
Rio, Marlene

Publication type:

journal article

Subarachnoid blood acutely induces spreading depolarizations and early cortical infarction.

Published in:

2017

By:

Hartings, Jed A.;
York, Jonathan;
Carroll, Christopher P.;
Hinzman, Jason M.;
Mahoney, Eric;
Krueger, Bryan;
Winkler, Maren K. L.;
Major, Sebastian;
Horst, Viktor;
Jahnke, Paul;
Woitzik, Johannes;
Kola, Vasilis;
Yifeng Du;
Hagen, Matthew;
Jianxiong Jiang;
Dreier, Jens P.;
Du, Yifeng;
Jiang, Jianxiong

Publication type:

journal article

Migraine and risk of stroke: a national population-based twin study.

Published in:

2017

By:

Lantz, Maria;
Sieurin, Johanna;
Sjölander, Arvid;
Waldenlind, Elisabet;
Sjöstrand, Christina;
Wirdefeldt, Karin

Publication type:

journal article

Anatomic consistencies across epilepsies: a stereotactic-EEG informed high-resolution structural connectivity study.

Published in:

2017

By:

Besson, Pierre;
Bandt, S. Kathleen;
Proix, Timothée;
Lagarde, Stanislas;
Jirsa, Viktor K.;
Ranjeva, Jean-Philippe;
Bartolomei, Fabrice;
Guye, Maxime

Publication type:

journal article

Mammalian target of rapamycin complex 1 activation sensitizes human glioma cells to hypoxia-induced cell death.

Published in:

2017

By:

Thiepold, Anna-Luisa;
Lorenz, Nadja I.;
Foltyn, Martha;
Engel, Anna L.;
Divé, Iris;
Urban, Hans;
Heller, Sonja;
Bruns, Ines;
Hofmann, Ute;
Dröse, Stefan;
Harter, Patrick N.;
Mittelbronn, Michel;
Steinbach, Joachim P.;
Ronellenfitsch, Michael W.

Publication type:

journal article

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Published in:

2017

By:

Alcantara, Diana;
Timms, Andrew E.;
Gripp, Karen;
Baker, Laura;
Park, Kaylee;
Collins, Sarah;
Chi Cheng;
Stewart, Fiona;
Mehta, Sarju G.;
Saggar, Anand;
Sztriha, László;
Zombor, Melinda;
Caluseriu, Oana;
Mesterman, Ronit;
Van Allen, Margot I.;
Jacquinet, Adeline;
Ygberg, Sofia;
Bernstein, Jonathan A.;
Wenger, Aaron M.;
Guturu, Harendra

Publication type:

journal article

Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke.

Published in:

2017

By:

Chia-Ling Phuah;
Dave, Tushar;
Malik, Rainer;
Raffeld, Miriam R.;
Ayres, Alison M.;
Goldstein, Joshua N.;
Viswanathan, Anand;
Greenberg, Steven M.;
Jagiella, Jeremiasz M.;
Hansen, Björn M.;
Bo Norrving;
Jimenez-Conde, Jordi;
Roquer, Jaume;
Pichler, Alexander;
Enzinger, Christian;
Montaner, Joan;
Fernandez-Cadenas, Israel;
Lindgren, Arne;
Slowik, Agnieszka;
Schmidt, Reinhold

Publication type:

journal article

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Published in:

2017

By:

Gerber, Sylvie;
Charif, Majida;
Chevrollier, Arnaud;
Chaumette, Tanguy;
Angebault, Claire;
Selma Kane, Mariame;
Paris, Aurélien;
Alban, Jennifer;
Quiles, Mélanie;
Delettre, Cécile;
Bonneau, Dominique;
Procaccio, Vincent;
Amati-Bonneau, Patrizia;
Reynier, Pascal;
Leruez, Stéphanie;
Calmon, Raphael;
Boddaert, Nathalie;
Funalot, Benoit;
Rio, Marlène;
Bouccara, Didier

Publication type:

journal article

Using an engineered glutamate-gated chloride channel to silence sensory neurons and treat neuropathic pain at the source.

Published in:

2017

By:

Weir, Greg A.;
Middleton, Steven J.;
Clark, Alex J.;
Daniel, Tarun;
Khovanov, Nikita;
McMahon, Stephen B.;
Bennett, David L.

Publication type:

journal article

Chronic non-freezing cold injury results in neuropathic pain due to a sensory neuropathy.

Published in:

2017

By:

Vale, Tom A.;
Symmonds, Mkael;
Polydefkis, Michael;
Byrnes, Kelly;
Rice, Andrew S. C.;
Themistocleous, Andreas C.;
Bennett, David L. H.

Publication type:

journal article

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.

Published in:

2017

By:

Dorboz, Imen;
Aiello, Chiara;
Simons, Cas;
Thompson Stone, Robert;
Niceta, Marcello;
Elmaleh, Monique;
Abuawad, Mohammad;
Doummar, Diane;
Bruselles, Alessandro;
Wolf, Nicole I.;
Travaglini, Lorena;
Boespflug-Tanguy, Odile;
Tartaglia, Marco;
Vanderver, Adeline;
Rodriguez, Diana;
Bertini, Enrico;
Stone, Robert Thompson

Publication type:

journal article

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Published in:

2017

By:

Adriaenssens, Elias;
Geuens, Thomas;
Baets, Jonathan;
Echaniz-Laguna, Andoni;
Timmerman, Vincent

Publication type:

journal article

Monitoring clinical progression with mitochondrial disease biomarkers.

Published in:

2017

By:

Steele, Hannah E.;
Horvath, Rita;
Lyon, Jon J.;
Chinnery, Patrick F.

Publication type:

journal article

Spreading depolarization and acute ischaemia in subarachnoid haemorrhage: the role of mass depolarization waves.

Published in:

2017

By:

Ghoshal, Shivani;
Claassen, Jan

Publication type:

journal article

Connectome-based models of the epileptogenic network: a step towards epileptomics?

Published in:

2017

By:

Bernasconi, Andrea

Publication type:

journal article

Chemogenetic management of neuropathic pain.

Published in:

2017

By:

Basbaum, Allan

Publication type:

journal article

Editorial.

Published in:

2017

By:

Kullmann, Dimitri M.

Publication type:

Editorial