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Neurogenetics

SCIE-ISI SCOPUS (1997-2023)

  1364-6745

 

 

Cơ quản chủ quản:  SPRINGER , Springer Verlag

Lĩnh vực:
Genetics (clinical)GeneticsCellular and Molecular Neuroscience

Các bài báo tiêu biểu

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Tập 14 Số 1 - Trang 11-22 - 2013
Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Chaim Huyser, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel A. Garcı́a-Estévez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Karen Marder, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Joseph E. Parisi, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs
Tập 5 Số 3 - Trang 177-185 - 2004
M Spadaro, Simona Ursu, Frank Lehmann‐Horn, Liana Veneziano, Giovanni Antonini, Paola Giunti, Marina Frontali, Karin Jurkat‐Rott
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
- 2014
Gerald Egger, Katharina Roetzer, Abdul Noor, Anath C. Lionel, Huda Mahmood, Thomas Schwarzbraun, Oliver Boright, Anna Mikhailov, Christian R. Marshall, Christian Windpassinger, Erwin Petek, Stephen W. Scherer, Wolfgang Kaschnitz, John B. Vincent
Evidence for allelic association of the dopamine β-hydroxylase gene (DBH) with susceptibility to typical migraine
- 2000
Rodney Arthur Lea, Adam Dohy, Kathryn L. Jordan, Sharon Anne Quinlan, Pj. Brimage, Lyn R. Griffiths
Differential expression of alpha-synuclein, parkin, and synphilin-1 isoforms in Lewy body disease
- 2008
Katrin Beyer, Montserrat Domingo-Sàbat, Jordi Humbert, Cristina Carrato, Isidró Ferrer, Aurelio Ariza
Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
- 2003
Ulrich Finckh, K. van Hadeln, Tomas Müller‐Thomsen, Antonella Alberici, Giuliano Binetti, C Hock, Roger M. Nitsch, Gabriela Stoppe, Jochen Reiss, Andreas Gal
Autism: evidence of association with adenosine deaminase genetic polymorphism
- 2001
Nunzio Bottini, Danila De Luca, Patrizia Saccucci, Agata Fiumara, Maurizio Elia, Maria Cristina Porfirio, P. Lucarelli, Paolo Curatolo
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
Tập 7 Số 1 - Trang 47-50 - 2006
Marcia Blair, Shaochun Ma, Peter Hedera