Lagier-Tourenn: search on Z-Library

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1

Animal models of neurodegenerative diseases

Dawson, Ted M., Golde, Todd E., Lagier-Tourenne, Clotilde

Journal:

Nature Neuroscience

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

2

Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors

Crotti, Andrea, Benner, Christopher, Kerman, Bilal E, Gosselin, David, Lagier-Tourenne, Clotilde, Zuccato, Chiara, Cattaneo, Elena, Gage, Fred H, Cleveland, Don W, Glass, Christopher K

Journal:

Nature Neuroscience

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

3

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H

Mireille Cossée, Clotilde Lagier-Tourenne, Claire Seguela, Michel Mohr, France Leturcq, Hulya Gundesli, Jamel Chelly, Christine Tranchant, Michel Koenig, Jean-Louis Mandel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 1.45 MB

english, 2009

4

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome

Lagier-Tourenne, C

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 266 KB

english, 2002

5

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

Gasset-Rosa, Fatima, Chillon-Marinas, Carlos, Goginashvili, Alexander, Atwal, Ranjit Singh, Artates, Jonathan W., Tabet, Ricardos, Wheeler, Vanessa C., Bang, Anne G., Cleveland, Don W., Lagier-Tourenn

Journal:

Year:

2017

Language:

english

File:

PDF, 6.96 MB

english, 2017

6

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

Konersman, Chamindra G., Freyermuth, Fernande, Winder, Thomas L., Lawlor, Michael W., Lagier-Tourenne, Clotilde, Patel, Shailendra B.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 2.20 MB

english, 2017

7

Misregulated RNA processing in amyotrophic lateral sclerosis

Magdalini Polymenidou, Clotilde Lagier-Tourenne, Kasey R. Hutt, C. Frank Bennett, Don W. Cleveland, Gene W. Yeo

Journal:

Year:

2012

Language:

english

File:

PDF, 523 KB

english, 2012

8

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

Nussbacher, Julia K., Tabet, Ricardos, Yeo, Gene W., Lagier-Tourenne, Clotilde

Journal:

Year:

2019

Language:

english

File:

PDF, 2.49 MB

english, 2019

9

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

Valérie Biancalana, Olivier Caron, Sabina Gallati, Frank Baas, Wolfram Kress, Giuseppe Novelli, Maria D'Apice, Clotilde Lagier-Tourenne, Anna Buj-Bello, Norma B. Romero, Jean-Louis Mandel

Journal:

Year:

2003

Language:

english

File:

PDF, 283 KB

english, 2003

10

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

Year:

2005

Language:

english

File:

PDF, 194 KB

english, 2005

11

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, Samira Makri, Lamia Ali-Pacha, Traki Benhassine, Mathieu Anheim, David R

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.74 MB

english, 2008

12

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

Assoum, M., Salih, M. A., Drouot, N., H'Mida-Ben Brahim, D., Lagier-Tourenne, C., AlDrees, A., Elmalik, S. A., Ahmed, T. S., Seidahmed, M. Z., Kabiraj, M. M., Koenig, M.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.61 MB

english, 2010

13

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

Clotilde Lagier-Tourenne, E. Ginglinger, Y. Alembik, A. De Saint Martin, M.O. Peter, P. Dulucq, P. Jonveaux, E. Jeandidier

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

14

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

Lagier-Tourenne, Clotilde, Polymenidou, Magdalini, Hutt, Kasey R, Vu, Anthony Q, Baughn, Michael, Huelga, Stephanie C, Clutario, Kevin M, Ling, Shuo-Chien, Liang, Tiffany Y, Mazur, Curt, Wancewicz, Ed

Journal:

Nature Neuroscience

Year:

2012

Language:

english

File:

PDF, 1.80 MB

english, 2012

15

Homozygosity mapping of a third Joubert syndrome locus to 6q23

Lagier-Tourenne, C

Journal:

Journal of Medical Genetics

Year:

2004

Language:

english

File:

PDF, 449 KB

english, 2004

16

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Hutt, Kasey R, Huelga, Stephanie C, Moran, Jacqueline, Liang, Tiffany Y, Ling, Shuo-Chien, Sun, Eveline, Wancewicz, Edward, Mazur, Curt

Journal:

Nature Neuroscience

Year:

2011

Language:

english

File:

PDF, 1.57 MB

english, 2011

17

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

D. H’mida-Ben Brahim, A. M’zahem, M. Assoum, Y. Bouhlal, F. Fattori, M. Anheim, L. Ali-Pacha, F. Ferrat, M. Chaouch, C. Lagier-Tourenne, N. Drouot, C. Thibaut, T. Benhassine, Y. Sifi, D. Stoppa-Lyonne

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 421 KB

english, 2011

18

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Braida, C., Stefanatos, R. K. A., Adam, B., Mahajan, N., Smeets, H. J. M., Niel, F., Goizet, C., Arveiler, B., Koenig, M., Lagier-Tourenne, C., Mandel, J. L., Faber, C. G., de Die-Smulders, C. E. M.,

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 567 KB

english, 2010

19

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

Arnold, E. S., Ling, S.-C., Huelga, S. C., Lagier-Tourenne, C., Polymenidou, M., Ditsworth, D., Kordasiewicz, H. B., McAlonis-Downes, M., Platoshyn, O., Parone, P. A., Da Cruz, S., Clutario, K. M., Sw

Journal:

Proceedings of the National Academy of Sciences

Year:

2013

Language:

english

File:

PDF, 3.39 MB

english, 2013

20

Novel clinical associations with specificC9ORF72transcripts in patients with repeat expansions inC9ORF72

M. Van Blitterswijk, T. F. Gendron, M. C. Baker, M. Dejesus-hernandez, N. A. Finch, P. H. Brown, L. M. Daughrity, M. E. Murray, M. G. Heckman, J. Jiang, C. Lagier-tourenne, D. Edbauer, D. W. Cleveland

Journal:

Acta Neuropathologica

Year:

2015

Language:

english

File:

PDF, 1.37 MB

english, 2015

21

RNA-binding proteins in neurodegeneration: Seq and you shall receive

Nussbacher, Julia K., Batra, Ranjan, Lagier-Tourenne, Clotilde, Yeo, Gene W.

Journal:

Trends in Neurosciences

Year:

2015

Language:

english

File:

PDF, 2.19 MB

english, 2015

22

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

Quinzii, C. M., Lopez, L. C., Gilkerson, R. W., Dorado, B., Coku, J., Naini, A. B., Lagier-Tourenne, C., Schuelke, M., Salviati, L., Carrozzo, R., Santorelli, F., Rahman, S., Tazir, M., Koenig, M., Di

Journal:

The FASEB Journal

Year:

2010

Language:

english

File:

PDF, 947 KB

english, 2010

23

SPG11 spastic paraplegia

Mathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, Marie Fleury, Alexandra Durr, Izzie Jacques Namer, Paola Denora, Alexis Brice, Jean Louis Mandel, Michel Koenig, Christine Tranchant

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 366 KB

english, 2009

24

Autosomal recessive cerebellar ataxia: A clinical and genetic study

Ali-Pacha, L., Hamza, W., Nouioua, S., Lagier-Tourenne, C., Assami, S., Benhassine, T., Koenig, M., Tazir, M.

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

25

Nuclear pores: the gate to neurodegeneration

Li, Nan, Lagier-Tourenne, Clotilde

Journal:

Nature Neuroscience

Year:

2018

Language:

english

File:

PDF, 965 KB

english, 2018

26

Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

Lagier-Tourenne, C, Tranebjærg, L, Chaigne, D, Gribaa, M, Dollfus, H, Silvestri, G, Bétard, C, Warter, J M, Koenig, M

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 258 KB

english, 2003

27

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes

Sophie Curbo, Clotilde Lagier-Tourenne, Rosalba Carrozzo, Lluis Palenzuela, Simona Lucioli, Michio Hirano, Filippo Santorelli, Joaquin Arenas, Anna Karlsson, Magnus Johansson

Journal:

Year:

2006

Language:

english

File:

PDF, 378 KB

english, 2006

28

Rethinking ALS: The FUS about TDP-43

Clotilde Lagier-Tourenne, Don W. Cleveland

Journal:

Year:

2009

Language:

english

File:

PDF, 480 KB

english, 2009

29

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23

Gribaa, M., Salih, M., Anheim, M., Lagier-Tourenne, C., H'mida, D., Drouot, N., Mohamed, A., Elmalik, S., Kabiraj, M., Al-Rayess, M., Almubarak, M., Betard, C., Goebel, H., Koenig, M.

Journal:

Year:

2007

Language:

english

File:

PDF, 975 KB

english, 2007

30

Phenotypic Suppression of ALS/FTD-Associated Neurodegeneration Highlights Mechanisms of Dysfunction

Bartoletti, Mathieu, Bosco, Daryl A., Da Cruz, Sandrine, Lagier-Tourenne, Clotilde, Liachko, Nicole, Markmiller, Sebastian, Webster, Kristin M., Wharton, Kristi A.

Journal:

Journal of Neuroscience

Year:

2019

File:

PDF, 385 KB

2019

31

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer, Céline Moutou, Anne-Sophie Jaeger, Astrid R. Oudakker, Herman Tournaye, Nicolas Charlet, Clotilde Lagier-Tourenne, Hans van Bokhoven, Stéphane Vi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.75 MB

english, 2007

32

ARCA2 : une nouvelle ataxie cérébelleuse autosomique récessive liée à des mutations du gène ADCK3

Anheim, M., Lagier-Tourenne, C., Tazir, M., Lopez, L.C., Quinzii, C.M., Drouot, N., Assoum, M., Makri, S., Ali-Pacha, L., Lynch, D., Mandel, J.L., Hirano, M., Tranchant, C., Koenig, M.

Journal:

Revue Neurologique

Year:

2008

Language:

french

File:

PDF, 140 KB

french, 2008

33

Neurodegeneration: An expansion in ALS genetics

Lagier-Tourenne, Clotilde, Cleveland, Don W.

Journal:

Year:

2010

Language:

english

File:

PDF, 173 KB

english, 2010

34

Taking on the Elephant in the Tissue Culture Room: iPSC Modeling for Sporadic ALS

Wainger, Brian J., Lagier-Tourenne, Clotilde

Journal:

Year:

2018

Language:

english

File:

PDF, 217 KB

english, 2018

35

Thymidine phosphorylase mutations cause instability of mitochondrial DNA

Michio Hirano, Clotilde Lagier-Tourenne, Maria L. Valentino, Ramon Martí, Yutaka Nishigaki

Journal:

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

36

Exploring the Effect of Sequence Length and Composition on Allele-Selective Inhibition of Human Huntingtin Expression by Single-Stranded Silencing RNAs

Hu, Jiaxin, Liu, Jing, Yu, Dongbo, Aiba, Yuichiro, Lee, Suheung, Pendergraff, Hannah, Boubaker, Jihane, Artates, Jonathan W., Lagier-Tourenne, Clotilde, Lima, Walt F., Swayze, Eric E., Prakash, Thazha

Journal:

Nucleic Acid Therapeutics (Formerly Oligonucleotides)

Year:

2014

Language:

english

File:

PDF, 638 KB

english, 2014

37

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

Meyer, K., Ferraiuolo, L., Miranda, C. J., Likhite, S., McElroy, S., Renusch, S., Ditsworth, D., Lagier-Tourenne, C., Smith, R. A., Ravits, J., Burghes, A. H., Shaw, P. J., Cleveland, D. W., Kolb, S.

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

38

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

Lagier-Tourenne, C., Baughn, M., Rigo, F., Sun, S., Liu, P., Li, H.-R., Jiang, J., Watt, A. T., Chun, S., Katz, M., Qiu, J., Sun, Y., Ling, S.-C., Zhu, Q., Polymenidou, M., Drenner, K., Artates, J. W.

Journal:

Proceedings of the National Academy of Sciences

Year:

2013

Language:

english

File:

PDF, 1.44 MB

english, 2013

39

La neuropathie avec cataracte congénitale et dysmorphie faciale (CCFDN). Analyse moléculaire du gène CTDP1 chez des familles consanguines

Hamadouche, Tarik, Lagier-Tourenne, Clotilde, Bernard, Rafaelle, Delague, Valérie, Benhassine, Traki, Philip, Nicole, Lévy, Nicolas

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 79 KB

french, 2012

40

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

Ling, S.-C., Albuquerque, C. P., Han, J. S., Lagier-Tourenne, C., Tokunaga, S., Zhou, H., Cleveland, D. W.

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 683 KB

english, 2010

41

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

Lagier-Tourenne, C., Polymenidou, M., Cleveland, D. W.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 487 KB

english, 2010

42

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

Shuo-Chien Ling, Claudio P. Albuquerque, Joo Seok Han, Clotilde Lagier-Tourenne, Seiya Tokunaga, Huilin Zhou and Don W. Cleveland

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.39 MB

english, 2010

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