Zobrazeno 1 - 10
of 1 428
pro vyhledávání: '"Peter, Bauer"'
Autor:
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian
Publikováno v:
EBioMedicine, Vol 107, Iss , Pp 105297- (2024)
Summary: Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense var
Externí odkaz:
https://doaj.org/article/dcf457b6550e45488640bb16d06d46d7
Publikováno v:
Neurological Sciences and Neurophysiology, Vol 41, Iss 2, Pp 118-120 (2024)
Externí odkaz:
https://doaj.org/article/553f08b0eee644bb8a17e8b623c6d959
Autor:
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-5 (2024)
Abstract The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 29
Externí odkaz:
https://doaj.org/article/168e33231a6740adb86274bd20fc49b5
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Begoña Talavera Andújar, Sandro L. Pereira, Susheel Bhanu Busi, Tatiana Usnich, Max Borsche, Sibel Ertan, Peter Bauer, Arndt Rolfs, Soraya Hezzaz, Jenny Ghelfi, Norbert Brüggemann, Paul Antony, Paul Wilmes, Christine Klein, Anne Grünewald, Emma L. Schymanski
Publikováno v:
Environment International, Vol 194, Iss , Pp 109151- (2024)
Pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are a primary monogenic cause of Parkinson’s disease (PD). However, the likelihood of developing PD with inherited LRRK2 pathogenic variants differs (a phenomenon known as “redu
Externí odkaz:
https://doaj.org/article/53b2fdfaecd24a82a16ac492dfe9127c
Publikováno v:
Remote Sensing, Vol 16, Iss 21, p 4010 (2024)
The ICESat-2 and SWOT satellite earth observation missions have provided highly accurate water surface slope (WSS) observations in global rivers for the first time. While water surface slope is expected to remain constant in time for approximately un
Externí odkaz:
https://doaj.org/article/116e1ccb7718449a98cbc395a7208f68
Autor:
Theerapol Charoensuk, Jakob Luchner, Nicola Balbarini, Piyamarn Sisomphon, Peter Bauer-Gottwein
Publikováno v:
Journal of Hydrology: Regional Studies, Vol 52, Iss , Pp 101737- (2024)
Study region: This study focuses on the Chao Phraya (CPY) Basin, Thailand. Study focus: This study aims to improve the skill of the CPY flood forecasting system, developed by Hydro-Informatics Institute (HII) and DHI A/S since 2012. It introduces two
Externí odkaz:
https://doaj.org/article/dba03044626a43b2a75e6085bd15e220
Autor:
Corina-Marcela Rus, Daniel L. Polla, Sebastiano Di Bucchianico, Steffen Fischer, Jörg Hartkamp, Guido Hartmann, Yunus Alpagu, Claudia Cozma, Ralf Zimmermann, Peter Bauer
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available. Employing a
Externí odkaz:
https://doaj.org/article/a4eb1fdcd139490db9d7a183dbaa6e1a
Autor:
Peter Bauer, Helmut Woschitz
Publikováno v:
Sensors, Vol 24, Iss 12, p 3742 (2024)
A Leica RTC360 laser scanner was investigated using a linear horizontal comparator system with four targets of different reflectance. Several thousand panorama scans were conducted along the 30 m long comparator, basically in 40 mm steps. For a selec
Externí odkaz:
https://doaj.org/article/774bc5c7b6a543428458836196ef0ede
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7