Works matching IS 00068950 AND DT 2019 AND VI 142 AND IP 9

Results: 35

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy.
Published in:
2019
By:
- Nicolas, Gaël;
- Grangeon, Lou;
- Wallon, David
Publication type:
Letter
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Published in:
2019
By:
- Duc, Diana Le;
- Giulivi, Cecilia;
- Hiatt, Susan M;
- Napoli, Eleonora;
- Panoutsopoulos, Alexios;
- Crescenzo, Angelo Harlan De;
- Kotzaeridou, Urania;
- Syrbe, Steffen;
- Anagnostou, Evdokia;
- Azage, Meron;
- Bend, Renee;
- Begtrup, Amber;
- Brown, Natasha J;
- Büttner, Benjamin;
- Cho, Megan T;
- Cooper, Gregory M;
- Doering, Jan H;
- Dubourg, Christèle;
- Everman, David B;
- Hildebrand, Michael S
Publication type:
journal article
Patterns of retrograde axonal degeneration in the visual system.
Published in:
2019
By:
- Vries-Knoppert, Willemien A de;
- Baaijen, Johannes C;
- Petzold, Axel;
- de Vries-Knoppert, Willemien A
Publication type:
journal article
Reply: A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.
Published in:
2019
By:
- Liao, Yi-Chu;
- Lee, Yi-Chung
Publication type:
Letter
Reply: LATE to the PART-y.
Published in:
2019
By:
- Nelson, Peter T;
- Dickson, Dennis W;
- Trojanowski, John Q;
- Jack, Clifford R;
- Boyle, Patricia A;
- Arfanakis, Konstantinos;
- Rademakers, Rosa;
- Alafuzoff, Irina;
- Attems, Johannes;
- Brayne, Carol;
- Coyle-Gilchrist, Ian T S;
- Fardo, David W;
- Flanagan, Margaret E;
- Halliday, Glenda;
- Hunter, Sally;
- Jicha, Gregory A;
- Katsumata, Yuriko;
- Kawas, Claudia H;
- Keene, C. Dirk;
- Kovacs, Gabor G
Publication type:
Letter
Sex differences in the genetic predictors of Alzheimer's pathology.
Published in:
2019
By:
- Dumitrescu, Logan;
- Barnes, Lisa L;
- Thambisetty, Madhav;
- Beecham, Gary;
- Kunkle, Brian;
- Bush, William S;
- Gifford, Katherine A;
- Chibnik, Lori B;
- Mukherjee, Shubhabrata;
- Jager, Philip L De;
- Kukull, Walter;
- Crane, Paul K;
- Resnick, Susan M;
- Keene, C Dirk;
- Montine, Thomas J;
- Schellenberg, Gerard D;
- Deming, Yuetiva;
- Chao, Michael J;
- Huentelman, Matt;
- Martin, Eden R
Publication type:
journal article
The art of making a clinical diagnosis of multiple system atrophy.
Published in:
2019
By:
- Klockgether, Thomas
Publication type:
journal article
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.
Published in:
2019
By:
- Lee, Jun Sung;
- Kanai, Kazuaki;
- Suzuki, Mari;
- Kim, Woojin S;
- Yoo, Han Soo;
- Fu, YuHong;
- Kim, Dong-Kyu;
- Jung, Byung Chul;
- Choi, Minsun;
- Oh, Kyu Won;
- Li, Yuanzhe;
- Nakatani, Mitsuyoshi;
- Nakazato, Tomoko;
- Sekimoto, Satoko;
- Funayama, Manabu;
- Yoshino, Hiroyo;
- Kubo, Shin-ichiro;
- Nishioka, Kenya;
- Sakai, Ryusuke;
- Ueyama, Morio
Publication type:
journal article
Chronic white matter lesion activity predicts clinical progression in primary progressive multiple sclerosis.
Published in:
2019
By:
- Elliott, Colm;
- Belachew, Shibeshih;
- Wolinsky, Jerry S;
- Hauser, Stephen L;
- Kappos, Ludwig;
- Barkhof, Frederik;
- Bernasconi, Corrado;
- Fecker, Julian;
- Model, Fabian;
- Wei, Wei;
- Arnold, Douglas L
Publication type:
journal article
Circuit-based interventions in the dentate gyrus rescue epilepsy-associated cognitive dysfunction.
Published in:
2019
By:
- Kahn, Julia B;
- Port, Russell G;
- Yue, Cuiyong;
- Takano, Hajime;
- Coulter, Douglas A
Publication type:
journal article
Cohesin complex-associated holoprosencephaly.
Published in:
2019
By:
- Kruszka, Paul;
- Berger, Seth I;
- Casa, Valentina;
- Dekker, Mike R;
- Gaesser, Jenna;
- Weiss, Karin;
- Martinez, Ariel F;
- Murdock, David R;
- Louie, Raymond J;
- Prijoles, Eloise J;
- Lichty, Angie W;
- Brouwer, Oebele F;
- Zonneveld-Huijssoon, Evelien;
- Stephan, Mark J;
- Hogue, Jacob;
- Hu, Ping;
- Tanima-Nagai, Momoko;
- Everson, Joshua L;
- Prasad, Chitra;
- Cereda, Anna
Publication type:
journal article
Coming off cannabis: a cognitive and magnetic resonance imaging study in patients with multiple sclerosis.
Published in:
2019
By:
- Feinstein, Anthony;
- Meza, Cecilia;
- Stefan, Cristiana;
- Staines, Richard W.
Publication type:
journal article
Stereoelectroencephalography: retrospective analysis of 742 procedures in a single centre.
Published in:
2019
By:
- Cardinale, Francesco;
- Rizzi, Michele;
- Vignati, Elena;
- Cossu, Massimo;
- Castana, Laura;
- d'Orio, Piergiorgio;
- Revay, Martina;
- Costanza, Martina Della;
- Tassi, Laura;
- Mai, Roberto;
- Sartori, Ivana;
- Nobili, Lino;
- Gozzo, Francesca;
- Pelliccia, Veronica;
- Mariani, Valeria;
- Russo, Giorgio Lo;
- Francione, Stefano;
- Lo Russo, Giorgio
Publication type:
journal article
The dark side of the moon: looking beyond beneficial effects of cannabis use in multiple sclerosis.
Published in:
2019
By:
- Penner, Iris-Katharina;
- Hartung, Hans-Peter
Publication type:
journal article
Dynamic functional connectivity changes associated with dementia in Parkinson's disease.
Published in:
2019
By:
- Fiorenzato, Eleonora;
- Strafella, Antonio P;
- Kim, Jinhee;
- Schifano, Roberta;
- Weis, Luca;
- Antonini, Angelo;
- Biundo, Roberta
Publication type:
journal article
Early complement genes are associated with visual system degeneration in multiple sclerosis.
Published in:
2019
By:
- Fitzgerald, Kathryn C;
- Kim, Kicheol;
- Smith, Matthew D;
- Aston, Sean A;
- Fioravante, Nicholas;
- Rothman, Alissa M;
- Krieger, Stephen;
- Cofield, Stacey S;
- Kimbrough, Dorlan J;
- Bhargava, Pavan;
- Saidha, Shiv;
- Whartenby, Katharine A;
- Green, Ari J;
- Mowry, Ellen M;
- Cutter, Gary R;
- Lublin, Fred D;
- Baranzini, Sergio E;
- Jager, Philip L De;
- Calabresi, Peter A;
- De Jager, Philip L
Publication type:
journal article
Editorial.
Published in:
2019
By:
- Kullmann, Dimitri M
Publication type:
Editorial
Encephalitis lethargica: a dying fall.
Published in:
2019
By:
- Zandi, Michael S
Publication type:
journal article
The functional neuroanatomy of emotion processing in frontotemporal dementias.
Published in:
2019
By:
- Marshall, Charles R;
- Hardy, Christopher J D;
- Russell, Lucy L;
- Bond, Rebecca L;
- Sivasathiaseelan, Harri;
- Greaves, Caroline;
- Moore, Katrina M;
- Agustus, Jennifer L;
- Leeuwen, Janneke E P van;
- Wastling, Stephen J;
- Rohrer, Jonathan D;
- Kilner, James M;
- Warren, Jason D;
- van Leeuwen, Janneke E P
Publication type:
journal article
GABAergic cell transplants in the anterior cingulate cortex reduce neuropathic pain aversiveness.
Published in:
2019
By:
- Juarez-Salinas, Dina L;
- Braz, Joao M;
- Etlin, Alexander;
- Gee, Steven;
- Sohal, Vikaas;
- Basbaum, Allan I
Publication type:
journal article
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Published in:
2019
By:
- Tan, Manuela M X;
- Malek, Naveed;
- Lawton, Michael A;
- Hubbard, Leon;
- Pittman, Alan M;
- Joseph, Theresita;
- Hehir, Jason;
- Swallow, Diane M A;
- Grosset, Katherine A;
- Marrinan, Sarah L;
- Bajaj, Nin;
- Barker, Roger A;
- Burn, David J;
- Bresner, Catherine;
- Foltynie, Thomas;
- Hardy, John;
- Wood, Nicholas;
- Ben-Shlomo, Yoav;
- Grosset, Donald G;
- Williams, Nigel M
Publication type:
journal article
High dose vitamin D exacerbates central nervous system autoimmunity by raising T-cell excitatory calcium.
Published in:
2019
By:
- Häusler, Darius;
- Torke, Sebastian;
- Peelen, Evelyn;
- Bertsch, Thomas;
- Djukic, Marija;
- Nau, Roland;
- Larochelle, Catherine;
- Zamvil, Scott S;
- Brück, Wolfgang;
- Weber, Martin S
Publication type:
journal article
Highly differentiated cytotoxic T cells in inclusion body myositis.
Published in:
2019
By:
- Greenberg, Steven A;
- Pinkus, Jack L;
- Kong, Sek Won;
- Baecher-Allan, Clare;
- Amato, Anthony A;
- Dorfman, David M
Publication type:
journal article
Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis.
Published in:
Brain: A Journal of Neurology, 2019, v. 142, n. 9, p. 2572, doi. 10.1093/brain/awz217
By:
- Tyzack, Giulia E;
- Luisier, Raphaelle;
- Taha, Doaa M;
- Neeves, Jacob;
- Modic, Miha;
- Mitchell, Jamie S;
- Meyer, Ione;
- Greensmith, Linda;
- Newcombe, Jia;
- Ule, Jernej;
- Luscombe, Nicholas M;
- Patani, Rickie
Publication type:
Article
Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study.
Published in:
2019
By:
- Miki, Yasuo;
- Foti, Sandrine C;
- Asi, Yasmine T;
- Tsushima, Eiki;
- Quinn, Niall;
- Ling, Helen;
- Holton, Janice L
Publication type:
journal article
Inclusion body myositis: accumulation of evidence for its autoimmune origin.
Published in:
2019
By:
- Benveniste, Olivier;
- Allenbach, Yves
Publication type:
journal article
Is cytoplasmic FUS a feature of all ALS?
Published in:
2019
By:
- Vidal, Marta;
- Atkin, Julie D
Publication type:
journal article
LATE to the PART-y.
Published in:
2019
By:
- Josephs, Keith A;
- Mackenzie, Ian;
- Frosch, Matthew P;
- Bigio, Eileen H;
- Neumann, Manuela;
- Arai, Tetsuaki;
- Dugger, Brittany N;
- Ghetti, Bernardino;
- Grossman, Murray;
- Hasegawa, Masato;
- Herrup, Karl;
- Holton, Janice;
- Jellinger, Kurt;
- Lashley, Tammaryn;
- McAleese, Kirsty E;
- Parisi, Joseph E;
- Revesz, Tamas;
- Saito, Yuko;
- Vonsattel, Jean Paul;
- Whitwell, Jennifer L
Publication type:
Letter
Locus coeruleus imaging as a biomarker for noradrenergic dysfunction in neurodegenerative diseases.
Published in:
2019
By:
- Betts, Matthew J;
- Kirilina, Evgeniya;
- Otaduy, Maria C G;
- Ivanov, Dimo;
- Acosta-Cabronero, Julio;
- Callaghan, Martina F;
- Lambert, Christian;
- Cardenas-Blanco, Arturo;
- Pine, Kerrin;
- Passamonti, Luca;
- Loane, Clare;
- Keuken, Max C;
- Trujillo, Paula;
- Lüsebrink, Falk;
- Mattern, Hendrik;
- Liu, Kathy Y;
- Priovoulos, Nikos;
- Fliessbach, Klaus;
- Dahl, Martin J;
- Maaß, Anne
Publication type:
journal article
A metabolic perspective on CSF-mediated neurodegeneration in multiple sclerosis.
Published in:
2019
By:
- Wentling, Maureen;
- Lopez-Gomez, Carlos;
- Park, Hye-Jin;
- Amatruda, Mario;
- Ntranos, Achilles;
- Aramini, James;
- Petracca, Maria;
- Rusielewicz, Tom;
- Chen, Emily;
- Tolstikov, Vladimir;
- Kiebish, Michael;
- Fossati, Valentina;
- Inglese, Matilde;
- Quinzii, Catarina M.;
- Sand, Ilana Katz;
- Casaccia, Patrizia;
- Katz Sand, Ilana
Publication type:
journal article
New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy.
Published in:
2019
By:
- Ferreira, Laura D;
- Oliveira, João Ricardo M de;
- de Oliveira, João Ricardo M
Publication type:
journal article
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Published in:
2019
By:
- Beijer, Danique;
- Deconinck, Tine;
- Bleecker, Jan L De;
- Dotti, Maria Teresa;
- Malandrini, Alessandro;
- Urtizberea, J Andoni;
- Zulaica, Miren;
- Munain, Adolfo López de;
- Asselbergh, Bob;
- Jonghe, Peter De;
- Baets, Jonathan;
- De Bleecker, Jan L;
- López de Munain, Adolfo;
- De Jonghe, Peter
Publication type:
journal article
A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.
Published in:
2019
By:
- Li, Jia-Qi;
- Dong, Hai-Lin;
- Chen, Cong-Xin;
- Wu, Zhi-Ying
Publication type:
Letter
Opening of ATP-sensitive potassium channels causes migraine attacks: a new target for the treatment of migraine.
Published in:
2019
By:
- Al-Karagholi, Mohammad Al-Mahdi;
- Hansen, Jakob Møller;
- Guo, Song;
- Olesen, Jes;
- Ashina, Messoud
Publication type:
journal article
Abnormal hippocampal structure and function in juvenile myoclonic epilepsy and unaffected siblings.
Published in:
2019
By:
- Caciagli, Lorenzo;
- Wandschneider, Britta;
- Xiao, Fenglai;
- Vollmar, Christian;
- Centeno, Maria;
- Vos, Sjoerd B;
- Trimmel, Karin;
- Sidhu, Meneka K;
- Thompson, Pamela J;
- Winston, Gavin P;
- Duncan, John S;
- Koepp, Matthias J
Publication type:
journal article