Martin Breuss : rechercher sur Z-Library

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1

When size matters: CHD8 in autism

Breuss, Martin W, Gleeson, Joseph G

Journal:

Nature Neuroscience

Année:

2016

Langue:

english

Fichier:

PDF, 217 KB

english, 2016

2

The expression of tubb2b undergoes a developmental transition in murine cortical neurons

Breuss, Martin, Morandell, Jasmin, Nimpf, Simon, Gstrein, Thomas, Lauwers, Mattias, Hochstoeger, Tobias, Braun, Andreas, Chan, Kelvin, Sánchez Guajardo, Edmundo R., Zhang, Lijuan, Suplata, Marek, Hein

Journal:

The Journal of Comparative Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 42.78 MB

english, 2015

3

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Breuss, Martin W., Antaki, Danny, George, Renee D., Kleiber, Morgan, James, Kiely N., Ball, Laurel L., Hong, Oanh, Mitra, Ileena, Yang, Xiaoxu, Wirth, Sara A., Gu, Jing, Garcia, Camila A. B., Gujral,

Journal:

Nature Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 15.89 MB

english, 2019

4

Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons

Treiber, Christoph Daniel, Salzer, Marion Claudia, Riegler, Johannes, Edelman, Nathaniel, Sugar, Cristina, Breuss, Martin, Pichler, Paul, Cadiou, Herve, Saunders, Martin, Lythgoe, Mark

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2012

5

Tuba8 Is Expressed at Low Levels in the Developing Mouse and Human Brain

Andreas Braun, Martin Breuss, Marion C. Salzer, Jonathan Flint, Nicholas J. Cowan, David A. Keays

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 332 KB

english, 2010

6

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Mar

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2012

7

High resolution anatomical mapping confirms the absence of a magnetic sense system in the rostral upper beak of pigeons

Treiber, Christoph Daniel, Salzer, Marion, Breuss, Martin, Ushakova, Lyubov, Lauwers, Mattias, Edelman, Nathaniel, Keays, David Anthony

Journal:

Communicative & Integrative Biology

Année:

2013

Langue:

english

Fichier:

PDF, 698 KB

english, 2013

8

Inhibition of Neointimal Formation after Stent Placement with Adenovirus-mediated Gene Transfer of IκBα in the Hypercholesterolemic Rabbit Model: Initial Results1

Cejna, Manfred, Breuss, Johannes M., Bergmeister, Helga, de Martin, Rainer, Xu, Zhongying, Grgurin, Mario, Losert, Udo, Plenk, Hanns, Binder, Bernd R., Lammer, Johannes

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 347 KB

english, 2002

9

The expression of tubb2b undergoes a developmental transition in murine cortical neurons

Breuss, Martin, Morandell, Jasmin, Nimpf, Simon, Gstrein, Thomas, Lauwers, Mattias, Hochstoeger, Tobias, Braun, Andreas, Chan, Kelvin, Sánchez Guajardo, Edmundo R., Zhang, Lijuan, Suplata, Marek, Hein

Journal:

The Journal of Comparative Neurology

Année:

2015

Fichier:

PDF, 1.31 MB

2015

10

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Po

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2015

11

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S.,

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2016

12

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S.,

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 55 KB

english, 2016

13

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

Breuss, Martin W., Nguyen, Thai, Srivatsan, Anjana, Leca, Ines, Tian, Guoling, Fritz, Tanja, Hansen, Andi H., Musaev, Damir, McEvoy-Venneri, Jennifer, James, Kiely N., Rosti, Rasim O., Scott, Eric, Ta

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2016

14

Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition

Breuss, Martin W., Hansen, Andi H., Landler, Lukas, Keays, David A.

Journal:

Behavioural Brain Research

Année:

2017

Langue:

english

Fichier:

PDF, 518 KB

english, 2017

15

Tubulins and brain development – The origins of functional specification

Breuss, Martin W., Leca, Ines, Gstrein, Thomas, Hansen, Andi H., Keays, David A.

Journal:

Molecular and Cellular Neuroscience

Année:

2017

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2017

16

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi H., Tripathy, Ratna, Traunbauer, Anna K., Hochstoeger, Tobias, Rosoklija, Gavril,

Journal:

Nature Neuroscience

Année:

2018

Langue:

english

Fichier:

PDF, 3.87 MB

english, 2018

17

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Se

Journal:

Nature Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 3.38 MB

english, 2018

18

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi H., Tripathy, Ratna, Traunbauer, Anna K., Hochstoeger, Tobias, Rosoklija, Gavril,

Journal:

Nature Neuroscience

Année:

2018

Langue:

english

Fichier:

PDF, 546 KB

english, 2018

19

Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

Breuss, Martin W., Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N., Musaev, Damir, Chai, Guoliang, Wirth, Sara A., Anzenberg, Paula, George, Renee D., Johansen, Anide, Ali,

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.42 MB

english, 2018

20

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W., Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 8.39 MB

english, 2018

21

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Breuss, Martin W., Antaki, Danny, George, Renee D., Kleiber, Morgan, James, Kiely N., Ball, Laurel L., Hong, Oanh, Mitra, Ileena, Yang, Xiaoxu, Wirth, Sara A., Gu, Jing, Garcia, Camila A. B., Gujral,

Journal:

Nature Medicine

Année:

2019

Fichier:

PDF, 15.89 MB

2019

22

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Garcia, Camila A.B., Carvalho, Simone C.S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabian

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 13.55 MB

english, 2020

23

Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Ghosh, Shereen Georges, Wang, Lu, Breuss, Martin W, Green, Joshua D, Stanley, Valentina, Yang, Xiaoxu, Ross, Danica, Traynor, Bryan J, Alhashem, Amal M, Azam, Matloob, Selim, Laila, Bastaki, Laila, El

Journal:

Journal of Medical Genetics

Année:

2020

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2020

24

The evolution of the mammalian ABCA6-like genes: analysis of phylogenetic, expression and population genetic data reveals complex evolutionary histories

Breuss, Martin W, Mamerto, Allen, Renner, Tanya, Waters, Elizabeth R, O'Connell, Mary

Journal:

Genome Biology and Evolution

Année:

2020

Fichier:

PDF, 2.04 MB

2020

25

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A.,

Journal:

European Journal of Human Genetics

Année:

2020

Fichier:

PDF, 2.60 MB

2020

26

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Kla

Journal:

Année:

2020

Fichier:

PDF, 1.51 MB

2020