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Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
Published in:
Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 33, doi. 10.1002/mdc3.13098
By:
- Heijer, Jonas M.;
- Hilten, Jacobus J.;
- Kievit, Anneke J.A.;
- Bonifati, Vincenzo;
- Groeneveld, Geert Jan
Publication type:
Article
Modelling the cascade of biomarker changes in progranulin‐related frontotemporal dementia: Neuroimaging / Optimal neuroimaging measures for tracking disease progression.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.040934
By:
- Venkatraghavan, Vikram;
- Panman, Jessica L.;
- van der Ende, Emma Louise;
- Steketee, Rebecca;
- Jiskoot, Lize C.;
- Poos, Jackie M.;
- Dopper, Elise G.P.;
- Meeter, Lieke H.H.;
- Kaat, Laura Donker;
- Rombouts, Serge A.R.B.;
- Vernooij, Meike W.;
- Kievit, Anneke J.A.;
- Premi, Enrico;
- Cosseddu, Maura;
- Bonomi, Elise;
- Olives, Jaume;
- Rohrer, Jonathan D.;
- Sanchez‐Valle, Raquel;
- Borroni, Barbara;
- Bron, Esther E.
Publication type:
Article
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Published in:
2016
By:
- Olgiati, Simone;
- Quadri, Marialuisa;
- Fang, Mingyan;
- Rood, Janneke P.M.A.;
- Saute, Jonas A.;
- Chien, Hsin Fen;
- Bouwkamp, Christian G.;
- Graafland, Josja;
- Minneboo, Michelle;
- Breedveld, Guido J.;
- Zhang, Jianguo;
- Verheijen, Frans W.;
- Boon, Agnita J.W.;
- Kievit, Anneke J.A.;
- Jardim, Laura Bannach;
- Mandemakers, Wim;
- Barbosa, Egberto Reis;
- Rieder, Carlos R.M.;
- Leenders, Klaus L.;
- Wang, Jun
Publication type:
journal article
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 380, doi. 10.1002/humu.24327
By:
- van Mazijk, Ralph;
- Haarman, Annechien E.G.;
- Hoefsloot, Lies H.;
- Polling, Jan R.;
- van Tienhoven, Marianne;
- Klaver, Caroline C.W.;
- Verhoeven, Virginie J.M.;
- Loudon, Sjoukje E.;
- Thiadens, Alberta A.H.J.;
- Kievit, Anneke J.A.
Publication type:
Article
Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).
Published in:
Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292
By:
- Sun, Yu;
- Almomani, Rowida;
- Breedveld, Guido J.;
- Santen, Gijs W.E.;
- Aten, Emmelien;
- Lefeber, Dirk J.;
- Hoff, Jorrit I.;
- Brusse, Esther;
- Verheijen, Frans W.;
- Verdijk, Rob M.;
- Kriek, Marjolein;
- Oostra, Ben;
- Breuning, Martijn H.;
- Losekoot, Monique;
- Dunnen, Johan T.;
- Warrenburg, Bart P.;
- Maat‐Kievit, Anneke J.A.
Publication type:
Article
Mutations in TMEM230 are not a common cause of Parkinson's disease.
Published in:
2017
By:
- Quadri, Marialuisa;
- Breedveld, Guido J.;
- Chang, Hsiu‐Chen;
- Yeh, Tu‐Hsueh;
- Guedes, Leonor Correia;
- Toni, Vincenzo;
- Fabrizio, Edito;
- De Mari, Michele;
- Thomas, Astrid;
- Tassorelli, Cristina;
- Rood, Janneke P.M.A.;
- Saddi, Valeria;
- Chien, Hsin Fen;
- Kievit, Anneke J.A.;
- Boon, Agnita J.W.;
- Stocchi, Fabrizio;
- Lopiano, Leonardo;
- Abbruzzese, Giovanni;
- Cortelli, Pietro;
- Meco, Giuseppe
Publication type:
Letter
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Published in:
2016
By:
- Olgiati, Simone;
- Skorvanek, Matej;
- Quadri, Marialuisa;
- Minneboo, Michelle;
- Graafland, Josja;
- Breedveld, Guido J.;
- Bonte, Ramon;
- Ozgur, Zeliha;
- Hout, Mirjam C.G.N.;
- Schoonderwoerd, Kees;
- Verheijen, Frans W.;
- IJcken, Wilfred F.J.;
- Chien, Hsin Fen;
- Barbosa, Egberto Reis;
- Chang, Hsiu‐Chen;
- Lai, Szu‐Chia;
- Yeh, Tu‐Hsueh;
- Lu, Chin‐Song;
- Wu‐Chou, Yah‐Huei;
- Kievit, Anneke J.A.
Publication type:
journal article

Found: 7

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.

Modelling the cascade of biomarker changes in progranulin‐related frontotemporal dementia: Neuroimaging / Optimal neuroimaging measures for tracking disease progression.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.

Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).

Mutations in TMEM230 are not a common cause of Parkinson's disease.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.