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Indelicato, Elisabetta;Boesch, Sylvia;Havrankova, Petra;Příhodová, Iva;Winkelmann, Juliane;Jech, Robert;Zech, Michael
SOXopathies and dystonia: Consolidation of a recurrent association.
Parkinsonism Relat Disord
2024
119

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Silvaieh, Sara;König, Theresa;Wurm, Raphael;Parvizi, Tandis;Berger-Sieczkowski, Evelyn;Goeschl, Stella;Hotzy, Christoph;Wagner, Matias;Berutti, Riccardo;Sammler, Esther;Stögmann, Elisabeth;Zimprich, Alexander
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
2023
17
1

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Deltas, Constantinos;Papagregoriou, Gregory;Louka, Stavroula F;Malatras, Apostolos;Flinter, Frances;Gale, Daniel P;Gear, Susie;Gross, Oliver;Hoefele, Julia;Lennon, Rachel;Miner, Jeffrey H;Renieri, Alessandra;Savige, Judy;Turner, A Neil
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Genes (Basel)
2023
14
9

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Smirnov, Dmitrii;Konstantinovskiy, Nikita;Prokisch, Holger
Integrative omics approaches to advance rare disease diagnostics.
J Inherit Metab Dis
2023
46
5
824-838

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Riedhammer, Korbinian;Thanh-Minh Nguyen, TM;Kosukcu, Can;Calzada-Wack, Julia;Li, Yong;Saygili, Seha;Kim, Gwang-Jin;Caliskan, Salim;Koettgen, Anna;Arnold, Sebastian;Ozaltin, Fatih;Schmidts, Miriam;Hoefele, Julia
FOXD2 DYSFUNCTION IS IMPLICATED IN SYNDROMIC CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT)
Pediatr Nephrol
2023
38 Suppl 2
S128-S129

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Kaiyrzhanov, Rauan;Rad, Aboulfazl;Lin, Sheng-Jia;Bertoli-Avella, Aida;Kallemeijn, Wouter W;Godwin, Annie;Zaki, Maha S;Huang, Kevin;Lau, Tracy;Petree, Cassidy;Efthymiou, Stephanie;Karimiani, Ehsan Ghayoor;Hempel, Maja;Normand, Elizabeth A;Rudnik-Schöneborn, Sabine;Schatz, Ulrich A;Baggelaar, Marc P;Ilyas, Muhammad;Sultan, Tipu;Alvi, Javeria Raza;Ganieva, Manizha;Fowler, Ben;Aanicai, Ruxandra;Tayfun, Gulsen Akay;Al Saman, Abdulaziz;Alswaid, Abdulrahman;Amiri, Nafise;Asilova, Nilufar;Shotelersuk, Vorasuk;Yeetong, Patra;Azam, Matloob;Babaei, Meisam;Monajemi, Gholamreza Bahrami;Mohammadi, Pouria;Samie, Saeed;Banu, Selina Husna;Pinto Basto, Jorge;Kortüm, Fanny;Bauer, Mislen;Bauer, Peter;Beetz, Christian;Garshasbi, Masoud;Issa, Awatif Hameed;Eyaid, Wafaa;Ahmed, Hind;Hashemi, Narges;Hassanpour, Kazem;Herman, Isabella;Ibrohimov, Sherozjon;Abdul-Majeed, Ban A;Imdad, Maria;Isrofilov, Maksudjon;Kaiyal, Qassem;Khan, Suliman;Kirmse, Brian;Koster, Janet;Lourenço, Charles Marques;Mitani, Tadahiro;Moldovan, Oana;Murphy, David;Najafi, Maryam;Pehlivan, Davut;Rocha, Maria Eugenia;Salpietro, Vincenzo;Schmidts, Miriam;Shalata, Adel;Mahroum, Mohammad;Talbeya, Jawabreh Kassem;Taylor, Robert W;Vazquez, Dayana;Vetro, Annalisa;Waterham, Hans R;Zaman, Mashaya;Schrader, Tina A;Chung, Wendy K;Guerrini, Renzo;Lupski, James R;Gleeson, Joseph;Suri, Mohnish;Jamshidi, Yalda;Bhatia, Kailash P;Vona, Barbara;Schrader, Michael;Severino, Mariasavina;Guille, Matthew;Tate, Edward W;Varshney, Gaurav K;Houlden, Henry;Maroofian, Reza
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
2024
147
4
1436-1456

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Indelicato, Elisabetta;Boesch, Sylvia;Mencacci, Niccolo' E;Ghezzi, Daniele;Prokisch, Holger;Winkelmann, Juliane;Zech, Michael
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Mov Disord
2024
39
1
29-35

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Mollereau, Bertrand;Hayflick, Susan J;Escalante, Ricardo;Mauthe, Mario;Papandreou, Apostolos;Iuso, Arcangela;Celle, Marion;Aniorte, Sahra;Issa, Abdul Raouf;Lasserre, Jean Paul;Lesca, Gaetan;Thobois, Stéphane;Burger, Pauline;Walter, Ludivine
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Autophagy
2023
19
12
3234-3239

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de Sainte Agathe, Jean-Madeleine;Pode-Shakked, Ben;Naudion, Sophie;Michaud, Vincent;Arveiler, Benoit;Fergelot, Patricia;Delmas, Jean;Keren, Boris;Poirsier, Céline;Alkuraya, Fowzan S;Tabarki, Brahim;Bend, Eric;Davis, Kellie;Bebin, Martina;Thompson, Michelle L;Bryant, Emily M;Wagner, Matias;Hannibal, Iris;Lenberg, Jerica;Krenn, Martin;Wigby, Kristen M;Friedman, Jennifer R;Iascone, Maria;Cereda, Anna;Miao, Térence;LeGuern, Eric;Argilli, Emanuela;Sherr, Elliott;Caluseriu, Oana;Tidwell, Timothy;Bayrak-Toydemir, Pinar;Hagedorn, Caroline;Brugger, Melanie;Vill, Katharina;Morneau-Jacob, Francois-Dominique;Chung, Wendy;Weaver, Kathryn N;Owens, Joshua W;Husami, Ammar;Chaudhari, Bimal P;Stone, Brandon S;Burns, Katie;Li, Rachel;de Lange, Iris M;Biehler, Margaux;Ginglinger, Emmanuelle;Gérard, Bénédicte;Stottmann, Rolf W;Trimouille, Aurélien
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
2023
60
10
999-1005

Mehr ...

Weiss, Katharina J;Berger, Ursula;Haider, Maliha;Wagner, Matias;Märtner, E M Charlotte;Regenauer-Vandewiele, Stephanie;Lotz-Havla, Amelie;Schuhmann, Elfriede;Röschinger, Wulf;Maier, Esther M
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clin Genet
2023
103
6
644-654