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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Published in:
2021
By:
- Sanderson, Leslie E;
- Lanko, Kristina;
- Alsagob, Maysoon;
- Almass, Rawan;
- Al-Ahmadi, Nada;
- Najafi, Maryam;
- Al-Muhaizea, Mohammad A;
- Alzaidan, Hamad;
- AlDhalaan, Hesham;
- Perenthaler, Elena;
- Linde, Herma C van der;
- Nikoncuk, Anita;
- Kühn, Nikolas A;
- Antony, Dinu;
- Owaidah, Tarek Mustafa;
- Raskin, Salmo;
- Vieira, Luana Gabriela Dalla Rosa;
- Mombach, Romulo;
- Ahangari, Najmeh;
- Silveira, Tainá Regina Damaceno
Publication type:
journal article
Identification of a conserved and acute neurodegeneration-specific microglial transcriptome in the zebrafish.
Published in:
Glia, 2017, v. 65, n. 1, p. 138, doi. 10.1002/glia.23083
By:
- Oosterhof, Nynke;
- Holtman, Inge R.;
- Kuil, Laura E.;
- van der Linde, Herma C.;
- Boddeke, Erik W.G.M.;
- Eggen, Bart J.L.;
- van Ham, Tjakko J.
Publication type:
Article
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00980-1
By:
- Yousefi, Soheil;
- Deng, Ruizhi;
- Lanko, Kristina;
- Salsench, Eva Medico;
- Nikoncuk, Anita;
- van der Linde, Herma C.;
- Perenthaler, Elena;
- van Ham, Tjakko J.;
- Mulugeta, Eskeatnaf;
- Barakat, Tahsin Stefan
Publication type:
Article
A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
Published in:
Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0166-y
By:
- Hukema, Renate;
- Riemslagh, Fréderike;
- Melhem, Shamiram;
- van der Linde, Herma;
- Severijnen, Lies-Anne;
- Edbauer, Dieter;
- Maas, Alex;
- Charlet-Berguerand, Nicolas;
- Willemsen, Rob;
- van Swieten, John
Publication type:
Article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
Published in:
Cardiology in the Young, 2022, v. 32, p. S3
By:
- Ruijmbeek, Claudine W. B.;
- Van Der Linde, Herma C.;
- Al Hassnan, Zuhair N.;
- Dalinghaus, Michiel;
- Van Den Bersselaar, Lisa M.;
- Van De Laar, Ingrid M. B. H.;
- Van Ham, Tjakko J.;
- Verhagen, Judith M. A.
Publication type:
Article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
Published in:
Cardiology in the Young, 2022, v. 32, n. S2, p. S3, doi. 10.1017/S1047951122001950
By:
- Ruijmbeek, Claudine W. B.;
- Van Der Linde, Herma C.;
- Al Hassnan, Zuhair N.;
- Dalinghaus, Michiel;
- Van Den Bersselaar, Lisa M.;
- Van De Laar, Ingrid M. B. H.;
- Van Ham, Tjakko J.;
- Verhagen, Judith M. A.
Publication type:
Article
Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish.
Published in:
PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048911
By:
- Zhao, Tianna;
- Zondervan-van der Linde, Herma;
- Severijnen, Lies-Anne;
- Oostra, Ben A.;
- Willemsen, Rob;
- Bonifati, Vincenzo
Publication type:
Article
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692
By:
- Galjaard, Robert-Jan H;
- Kostakoglu, Naci;
- Hoogeboom, Jeannette J M;
- Breedveld, Guido J;
- van der Linde, Herma C;
- Hovius, Steven ER;
- Oostra, Ben A;
- Sandkuijl, Lodewijk A;
- Akarsu, A Nurten;
- Heutink, Peter
Publication type:
Article
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 1, p. 151, doi. 10.1093/hmg/ddac199
By:
- Zada, Almira;
- Zhao, Yuying;
- Halim, Danny;
- Windster, Jonathan;
- Linde, Herma C van der;
- Glodener, Jackleen;
- Overkleeft, Sander;
- Graaf, Bianca M de;
- Verdijk, Robert M;
- Brooks, Alice S;
- Shepherd, Iain;
- Gao, Ya;
- Burns, Alan J;
- Hofstra, Robert M W;
- Alves, Maria M
Publication type:
Article
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 5, p. 1320, doi. 10.1093/hmg/ddt522
By:
- Iglesias, Adriana I.;
- Springelkamp, Henriët;
- van der Linde, Herma;
- Severijnen, Lies-Anne;
- Amin, Najaf;
- Oostra, Ben;
- Kockx, Christel E. M.;
- van den Hout, Mirjam C. G. N.;
- van IJcken, Wilfred F. J.;
- Hofman, Albert;
- Uitterlinden, André G.;
- Verdijk, Rob M.;
- Klaver, Caroline C. W.;
- Willemsen, Rob;
- van Duijn, Cornelia M.
Publication type:
Article
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Published in:
Acta Neuropathologica, 2023, v. 146, n. 2, p. 353, doi. 10.1007/s00401-023-02579-9
By:
- Deng, Ruizhi;
- Medico-Salsench, Eva;
- Nikoncuk, Anita;
- Ramakrishnan, Reshmi;
- Lanko, Kristina;
- Kühn, Nikolas A.;
- van der Linde, Herma C.;
- Lor-Zade, Sarah;
- Albuainain, Fatimah;
- Shi, Yuwei;
- Yousefi, Soheil;
- Capo, Ivan;
- van den Herik, Evita Medici;
- van Slegtenhorst, Marjon;
- van Minkelen, Rick;
- Geeven, Geert;
- Mulder, Monique T.;
- Ruijter, George J. G.;
- Lütjohann, Dieter;
- Jacobs, Edwin H.
Publication type:
Article
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Published in:
Acta Neuropathologica, 2022, v. 144, n. 2, p. 211, doi. 10.1007/s00401-022-02440-5
By:
- Berdowski, Woutje M.;
- van der Linde, Herma C.;
- Breur, Marjolein;
- Oosterhof, Nynke;
- Beerepoot, Shanice;
- Sanderson, Leslie;
- Wijnands, Lieve I.;
- de Jong, Patrick;
- Tsai-Meu-Chong, Elisa;
- de Valk, Walter;
- de Witte, Moniek;
- van IJcken, Wilfred F. J.;
- Demmers, Jeroen;
- van der Knaap, Marjo S.;
- Bugiani, Marianna;
- Wolf, Nicole I.;
- van Ham, Tjakko J.
Publication type:
Article
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 3, p. 415, doi. 10.1007/s00401-019-02109-6
By:
- Perenthaler, Elena;
- Nikoncuk, Anita;
- Yousefi, Soheil;
- Berdowski, Woutje M.;
- Alsagob, Maysoon;
- Capo, Ivan;
- van der Linde, Herma C.;
- van den Berg, Paul;
- Jacobs, Edwin H.;
- Putar, Darija;
- Ghazvini, Mehrnaz;
- Aronica, Eleonora;
- van IJcken, Wilfred F. J.;
- de Valk, Walter G.;
- Medici-van den Herik, Evita;
- van Slegtenhorst, Marjon;
- Brick, Lauren;
- Kozenko, Mariya;
- Kohler, Jennefer N.;
- Bernstein, Jonathan A.
Publication type:
Article
Mutations in TITF-1 are associated with benign hereditary chorea.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 8, p. 971, doi. 10.1093/hmg/11.8.971
By:
- Breedveld, Guido J.;
- van Dongen, Jeroen W.F.;
- Danesino, Cesare;
- Guala, Andrea;
- Percy, Alan K.;
- Dure, Leon S.;
- Harper, Peter;
- Lazarou, Lazarus P.;
- van der Linde, Herma;
- Joosse, Marijke;
- Grüters, Annette;
- MacDonald, Marcy E.;
- de Vries, Bert B.A.;
- Arts, Willem Frans M.;
- Oostra, Ben A.;
- Krude, Heiko;
- Heutink, Peter
Publication type:
Article
IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.
Published in:
PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199737
By:
- Gao, Ya;
- de Wit, Maurice;
- Struys, Eduard A.;
- van der Linde, Herma C. Z.;
- Salomons, Gajja S.;
- Lamfers, Martine L. M.;
- Willemsen, Rob;
- Sillevis Smitt, Peter A. E.;
- French, Pim J.
Publication type:
Article
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
Published in:
2005
By:
- Bertoli-Avella, Aida M.;
- Giroud-Benitez, José L.;
- Akyol, Ali;
- Barbosa, Egberto;
- Schaap, Onno;
- van der Linde, Herma C.;
- Martignoni, Emilia;
- Lopiano, Leonardo;
- Lamberti, Paolo;
- Fincati, Emiliana;
- Antonini, Angelo;
- Stocchi, Fabrizio;
- Montagna, Pasquale;
- Squitieri, Ferdinando;
- Marini, Paolo;
- Abbruzzese, Giovanni;
- Fabbrini, Giovanni;
- Marconi, Roberto;
- Dalla Libera, Alessio;
- Trianni, Giorgio
Publication type:
journal article

Found: 16