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NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long‐Term Follow‐up
Ng, Adeline S. L., Lim, Weng Khong, Xu, Zheyu, Ong, Helen L., Tan, Yi Jayne, Sim, Wei Ying, Ng, Ebonne Y. L., Teo, Jing Xian, Foo, Jia Nee, Lim, Tchoyoson C. C., Yu, Wai‐Yung, Chan, Ling‐Ling, Lee, Hwei‐Yee, Chen, Zhiyong, Lim, Ee‐Wei, Ting, Simon K. S., Prakash, Kumar M., Tan, Louis C. S., Yi, Zhao, Tan, Eng‐King
Published in Annals of neurology (01.09.2020)
Published in Annals of neurology (01.09.2020)
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Journal Article
Diffusion Tensor Imaging White Matter Endophenotypes in Patients With Schizophrenia or Psychotic Bipolar Disorder and Their Relatives
Skudlarski, Pawel, Schretlen, David J., Thaker, Gunvant K., Stevens, Michael C., Keshavan, Matcheri S., Sweeney, John A., Tamminga, Carol A., Clementz, Brett A., O’Neil, Kasey, Pearlson, Godfrey D.
Published in The American journal of psychiatry (01.08.2013)
Published in The American journal of psychiatry (01.08.2013)
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Journal Article
Association between cystatin C gene polymorphism and the prevalence of white matter lesion in elderly healthy subjects
Maniwa, Kyohei, Yano, Shozo, Sheikh, Abdullah Md, Onoda, Keiichi, Mitaki, Shingo, Isomura, Minoru, Mishima, Seiji, Yamaguchi, Shuhei, Nabika, Toru, Nagai, Atsushi
Published in Scientific reports (13.03.2020)
Published in Scientific reports (13.03.2020)
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Journal Article
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids
Eichler, Florian S., Li, Jiankang, Guo, Yiran, Caruso, Paul A., Bjonnes, Andrew C., Pan, Jessica, Booker, Jessica K., Lane, Jacqueline M., Tare, Archana, Vlasac, Irma, Hakonarson, Hakon, Gusella, James F., Zhang, Jianguo, Keating, Brendan J., Saxena, Richa
Published in Brain (London, England : 1878) (01.06.2016)
Published in Brain (London, England : 1878) (01.06.2016)
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Journal Article
Liver pathology in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: vasculopathic disease beyond nodular regenerative hyperplasia
Khonde, Pooja, Chatterjee, Deyali, Bogacki, Madonna, Liszewski, M. Kathryn, Ford, Andria L., Miner, Jonathan J., Atkinson, John P., Brunt, Elizabeth M.
Published in Human pathology (01.05.2023)
Published in Human pathology (01.05.2023)
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Journal Article
Incident lacunes preferentially localize to the edge of white matter hyperintensities: insights into the pathophysiology of cerebral small vessel disease
Duering, M., Csanadi, E., Gesierich, B., Jouvent, E., Herve, D., Seiler, S., Belaroussi, B., Ropele, S., Schmidt, R., Chabriat, H., Dichgans, M.
Published in Brain (London, England : 1878) (01.09.2013)
Published in Brain (London, England : 1878) (01.09.2013)
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Journal Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
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Journal Article
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Cortical network dysfunction caused by a subtle defect of myelination
Poggi, Giulia, Boretius, Susann, Möbius, Wiebke, Moschny, Nicole, Baudewig, Jürgen, Ruhwedel, Torben, Hassouna, Imam, Wieser, Georg L., Werner, Hauke B., Goebbels, Sandra, Nave, Klaus-Armin, Ehrenreich, Hannelore
Published in Glia (01.11.2016)
Published in Glia (01.11.2016)
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Journal Article
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy
Itoh, Masayuki, Dai, Hongmei, Horike, Shin-ichi, Gonzalez, John, Kitami, Yoshikazu, Meguro-Horike, Makiko, Kuki, Ichiro, Shimakawa, Shuichi, Yoshinaga, Harumi, Ota, Yoko, Okazaki, Tetsuya, Maegaki, Yoshihiro, Nabatame, Shin, Okazaki, Shin, Kawawaki, Hisashi, Ueno, Naoto, Goto, Yu-ichi, Kato, Yoichi
Published in Brain (London, England : 1878) (01.03.2019)
Published in Brain (London, England : 1878) (01.03.2019)
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Journal Article
HTRA1 expression profile and activity on TGF‐β signaling in HTRA1 mutation carriers
Fasano, Alessandro, Formichi, Patrizia, Taglia, Ilaria, Bianchi, Silvia, Di Donato, Ilaria, Battisti, Carla, Federico, Antonio, Dotti, Maria Teresa
Published in Journal of cellular physiology (01.10.2020)
Published in Journal of cellular physiology (01.10.2020)
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Journal Article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy
Dorboz, Imen, Aiello, Chiara, Simons, Cas, Stone, Robert Thompson, 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
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Journal Article
Cerebral Amyloid Angiopathy, Subcortical White Matter Disease and Dementia: Literature Review and Study in OPTIMA
Esiri, Margaret, Chance, Steven, Joachim, Catharine, Warden, Donald, Smallwood, Aidan, Sloan, Carolyn, Christie, Sharon, Wilcock, Gordon, Smith, A. David
Published in Brain pathology (Zurich, Switzerland) (01.01.2015)
Published in Brain pathology (Zurich, Switzerland) (01.01.2015)
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Journal Article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Farina, Laura, Pichiecchio, Anna, Orcesi, Simona, Chiapparini, Luisa, Ghezzi, Daniele
Published in Orphanet journal of rare diseases (04.04.2018)
Published in Orphanet journal of rare diseases (04.04.2018)
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Journal Article
Genes From a Translational Analysis Support a Multifactorial Nature of White Matter Hyperintensities
Lopez, Lorna M., Hill, W. David, Harris, Sarah E., Valdes Hernandez, Maria, Munoz Maniega, Susana, Bastin, Mark E., Bailey, Emma, Smith, Colin, McBride, Martin, McClure, John, Graham, Delyth, Dominiczak, Anna, Yang, Qiong, Fornage, Myriam, Ikram, M. Arfan, Debette, Stephanie, Launer, Lenore, Bis, Joshua C., Schmidt, Reinhold, Seshadri, Sudha, Porteous, David J., Starr, John, Deary, Ian J., Wardlaw, Joanna M.
Published in Stroke (1970) (01.02.2015)
Published in Stroke (1970) (01.02.2015)
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Journal Article
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Erro, Roberto, Hersheson, Joshua, Ganos, Christos, Mencacci, Niccoló E., Stamelou, Maria, Batla, Amit, Thust, Stefanie Catherine, Bras, Jose M., Guerreiro, Rita J., Hardy, John, Quinn, Niall P., Houlden, Henry, Bhatia, Kailash P.
Published in Movement disorders (01.05.2015)
Published in Movement disorders (01.05.2015)
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Journal Article
Long-term Variability in Glycemic Control Is Associated With White Matter Hyperintensities in APOE4 Genotype Carriers With Type 2 Diabetes
Livny, Abigail, Ravona-Springer, Ramit, Heymann, Anthony, Priess, Rachel, Kushnir, Tammar, Tsarfaty, Galia, Rabinov, Leeron, Moran, Reut, Hoffman, Hadass, Cooper, Itzik, Greenbaum, Lior, Silverman, Jeremy, Sano, Mary, Johnson, Sterling C., Bendlin, Barbara B., Schnaider Beeri, Michal
Published in Diabetes care (01.06.2016)
Published in Diabetes care (01.06.2016)
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Journal Article
Four Swedish cases of CSF1R‐related leukoencephalopathy: Visualization of clinical phenotypes
Rosenstein, Igal, Andersen, Oluf, Victor, Daniel, Englund, Elisabet, Granberg, Tobias, Hedberg‐Oldfors, Carola, Jood, Katarina, Fitrah, Yusran Ady, Ikeuchi, Takeshi, Danylaité Karrenbauer, Virginija
Published in Acta neurologica Scandinavica (01.05.2022)
Published in Acta neurologica Scandinavica (01.05.2022)
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Journal Article
Cardiac and Carotid Markers Link With Accelerated Brain Atrophy: The AGES–Reykjavik Study (Age, Gene/Environment Susceptibility–Reykjavik)
Sabayan, Behnam, van Buchem, Mark A., Sigurdsson, Sigurdur, Zhang, Qian, Meirelles, Osorio, Harris, Tamara B., Gudnason, Vilmundur, Arai, Andrew E., Launer, Lenore J.
Published in Arteriosclerosis, thrombosis, and vascular biology (01.11.2016)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.11.2016)
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Journal Article