Tarja Joensuu : rechercher sur Z-Library

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1

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Sall

Journal:

Nature Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014

2

High pre-treatment serum level of vascular endothelial growth factor (VEGF) is associated with poor outcome in small-cell lung cancer

Petri Salven, Tarja Ruotsalainen, Karin Mattson, Heikki Joensuu

Journal:

International Journal of Cancer

Année:

1998

Langue:

english

Fichier:

PDF, 68 KB

english, 1998

3

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

Eeva-Marja Sankila, Tarja H. Joensuu, Riikka H. Hämäläinen, Nina Raitanen, Olavi Valle, Jaakko Ignatius, Bru Cormand

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 11 KB

english, 2000

4

Molecular background of EPM1—Unverricht–Lundborg disease

Tarja Joensuu, Anna-Elina Lehesjoki, Outi Kopra

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 525 KB

english, 2008

5

10.1038/75664

de la Chapelle, Albert, Pellegata, Natalia S., Dieguez-Lucena, Jose L., Joensuu, Tarja, Lau, Stephanie, Montgomery, Kate T., Krahe, Ralf, Kivelä, Tero, Kucherlapati, Raju, Forsius, Henrik

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 714 KB

english, 2000

6

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anttonen, Anna-Kaisa, Mahjneh, Ibrahim, Hämäläinen, Riikka H, Lagier-Tourenne, Clotilde, Kopra, Outi, Waris, Laura, Anttonen, Mikko, Joensuu, Tarja, Kalimo, Hannu, Paetau, Anders

Journal:

Nature Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 194 KB

english, 2005

7

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Adato, Avital, Vreugde, Sarah, Joensuu, Tarja, Avidan, Nili, Hamalainen, Riikka, Belenkiy, Olga, Olender, Tsviya, Bonne-Tamir, Batsheva, Ben-Asher, Edna, Espinos, Carmen

Journal:

European Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 877 KB

english, 2002

8

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

Joensuu, Tarja, Kuronen, Mervi, Alakurtti, Kirsi, Tegelberg, Saara, Hakala, Paula, Aalto, Antti, Huopaniemi, Laura, Aula, Nina, Michellucci, Roberto, Eriksson, Kai

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 295 KB

english, 2006

9

Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

Tarja Joensuu, Gonzalo Blanco, Leenamaija Pakarinen, Pertti Sistonen, Helena Kääriäinen, Steve Brown, Albert de la Chapelle, Eeva-Marja Sankila

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 686 KB

english, 1996

10

A Sequence-Ready Map of the Usher Syndrome Type III Critical Region on Chromosome 3q

Tarja Joensuu, Riikka Hämäläinen, Anna-Elina Lehesjoki, Albert de la Chapelle, Eeva-Marja Sankila

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 74 KB

english, 2000

11

Characterisation of the mulibrey nanism-associated TRIM37 gene: Transcription initiation, promoter region and alternative splicing

Riikka H. Hämäläinen, Tarja Joensuu, Jukka Kallijärvi, Anna-Elina Lehesjoki

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 652 KB

english, 2006

12

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1

Kirsi Alakurtti, Kimmo Virtaneva, Tarja Joensuu, Jorma J. Palvimo, Anna-Elina Lehesjoki

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 284 KB

english, 2000

13

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna-Elina Lehesjoki, Albert de la Chapelle, Eeva-Mar

Journal:

The American Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2001

14

Lactose intolerance associated with adjuvant 5-fluorouracil-based chemotherapy for colorectal cancer

Österlund, Pia, Ruotsalainen, Tarja, Peuhkuri, Katri, Korpela, Riitta, Ollus, Anneli, Ikonen, Minna, Joensuu, Heikki, Elomaa, Inkeri

Journal:

Clinical Gastroenterology and Hepatology

Année:

2004

Langue:

english

Fichier:

PDF, 162 KB

english, 2004

15

Abnormal microglial activation in the Cstb −/− mouse, a model for progressive myoclonus epilepsy, EPM1

Okuneva, Olesya, Körber, Inken, Li, Zhilin, Tian, Li, Joensuu, Tarja, Kopra, Outi, Lehesjoki, Anna-Elina

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 879 KB

english, 2015

16

Concomitant Chemotherapy and IFN-alpha for Small Cell Lung Cancer: A Randomized Multicenter Phase III Study

Ruotsalainen, Tarja M., Halme, Maija, Tamminen, Klaus, Szopinski, Janusz, Niiranen, Aila, Pyrhonen, Seppo, Riska, Henrik, Maasilta, Paula, Jekunen, Antti, Mantyla, Matti, Kajanti, Mikael, Joensuu, Hei

Journal:

Journal of Interferon & Cytokine Research

Année:

1999

Langue:

english

Fichier:

PDF, 178 KB

english, 1999

17

Interferon-α and 13-cis-retinoic acid as maintenance therapy after high-dose combination chemotherapy with growth factor support for small cell lung cancer - a feasibility study

Ruotsalainen, Tarja, Halme, Maija, Isokangas, Olli-Pekka, Pyrhönen, Seppo, Mäntylä, Matti, Pekonen, Markku, Sarna, Seppo, Joensuu, Heikki, Mattson, Karin

Journal:

Anti-Cancer Drugs

Année:

2000

Langue:

english

Fichier:

PDF, 115 KB

english, 2000

18

Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb −/− Mouse Model of Progressive Myoclonus Epilepsy, EPM1

Tegelberg, Saara, Kopra, Outi, Joensuu, Tarja, Cooper, Jonathan D., Lehesjoki, Anna-Elina

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2012

19

Brain inflammation is accompanied by peripheral inflammation inCstb−/−mice, a model for progressive myoclonus epilepsy

Okuneva, Olesya, Li, Zhilin, Körber, Inken, Tegelberg, Saara, Joensuu, Tarja, Tian, Li, Lehesjoki, Anna-Elina

Journal:

Journal of Neuroinflammation

Année:

2016

Langue:

english

Fichier:

PDF, 2.33 MB

english, 2016

20

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

Knuutinen, Oula, Kousi, Maria, Suo-Palosaari, Maria, Moilanen, Jukka, Tuominen, Hannu, Vainionpää, Leena, Joensuu, Tarja, Anttonen, Anna-Kaisa, Uusimaa, Johanna, Lehesjoki, Anna-Elina, Vieira, Päivi

Journal:

Neuropediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 289 KB

english, 2018

21

Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation

Joensuu, Tarja, Tegelberg, Saara, Reinmaa, Eva, Segerstråle, Mikael, Hakala, Paula, Pehkonen, Heidi, Korpi, Esa R., Tyynelä, Jaana, Taira, Tomi, Hovatta, Iiris, Kopra, Outi, Lehesjoki, Anna-Elina, Gon

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2014

22

Self-Assembling Protein-Polymer Bioconjugates for Surfaces with Antifouling Features and Low Non-Specific Binding

Liu, Yingying, Nevanen, Tarja K., Paananen, Arja, Kempe, Kristian, Wilson, Paul, Johansson, Leena-Sisko, Joensuu, Jussi Joonas, Linder, Markus B, Haddleton, David M., Milani, Roberto

Journal:

ACS Applied Materials & Interfaces

Année:

2018

Langue:

english

Fichier:

PDF, 2.34 MB

english, 2018

23

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

Mazzola, Laure, Oliver, Karen L, Labalme, Audrey, Baykan, BetÃ¼l, Muona, Mikko, Joensuu, Tarja H, Courage, Carolina, Chatron, Nicolas, Borsani, Giuseppe, Alix, Eudeline, Ramond, Francis, Touraine, Ren

Journal:

Annals of Neurology

Année:

2020

Fichier:

PDF, 1.46 MB

2020