Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder
Pauly, Martje G, Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja
Published in International journal of molecular sciences (18.01.2023)
Published in International journal of molecular sciences (18.01.2023)
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Journal Article
Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS) [version 2; peer review: 1 approved, 1 approved with reservations]
Kekenadze, Mariam, Rocca, Clarissa, Turchetti, Valentina, Nagy, Sara, Kvirkvelia, Nana, Vashadze, Shorena, Kvaratskhelia, Eka, Beridze, Maia, Kaiyrzhanov, Rauan, Houlden, Henry
Published in F1000 research (2024)
Published in F1000 research (2024)
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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
Efthymiou, Stephanie, Novis, Luiz E, Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F, Raskin, Salmo, Srinivasan, Varunvenkat M, Pagnamenta, Alistair T, Arun, Yaramanchanahalli B, Kinhal, Uddhava V, Gowda, Vykuntaraju K, Teive, Helio A G, Houlden, Henry
Published in Annals of clinical and translational neurology (01.10.2023)
Published in Annals of clinical and translational neurology (01.10.2023)
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A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
Akram, Rabia, Anwar, Haseeb, Muzaffar, Humaira, Turchetti, Valentina, Lau, Tracy, Vona, Barbara, Makhdoom, Ehtisham Ul Haq, Iqbal, Javed, Mahmood Baig, Shahid, Hussain, Ghulam, Efthymiou, Stephanie, Houlden, Henry
Published in Genes (13.09.2024)
Published in Genes (13.09.2024)
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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Armirola-Ricaurte, Camila, Zonnekein, Noortje, Koutsis, Georgios, Amor-Barris, Silvia, Pelayo-Negro, Ana Lara, Atkinson, Derek, Efthymiou, Stephanie, Turchetti, Valentina, Dinopoulos, Argyris, Garcia, Antonio, Karakaya, Mert, Moris, German, Polat, Ayşe Ipek, Yiş, Uluç, Espinos, Carmen, Van de Vondel, Liedewei, De Vriendt, Els, Karadima, Georgia, Wirth, Brunhilde, Hanna, Michael, Houlden, Henry, Berciano, Jose, Jordanova, Albena
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M, Jewell, Jerry L, Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Delgado Alvarez, Ignacio, Felipe-Rucián, Ana, Haridy, Nourelhoda A, Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P, Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S, Mirsky, David M, Whitehead, Matthew T, Zaki, Maha S, Sultan, Tipu, Striano, Pasquale, Jansen, Anna C, Lequin, Maarten, de Vries, Linda S, Severino, Mariasavina, Edmondson, Andrew C, Menzies, Lara, Campeau, Philippe M, Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij
Published in Brain (London, England : 1878) (01.08.2024)
Published in Brain (London, England : 1878) (01.08.2024)
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Journal Article
Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS) [version 1; peer review: 1 approved, 1 approved with reservations]
Kekenadze, Mariam, Rocca, Clarissa, Turchetti, Valentina, Nagy, Sara, Kvirkvelia, Nana, Vashadze, Shorena, Kvaratskhelia, Eka, Beridze, Maia, Kaiyrzhanov, Rauan, Houlden, Henry
Published in F1000 research (2023)
Published in F1000 research (2023)
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Journal Article
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A, Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E, Mark, Paul, Harr, Margaret H, Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A, Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H, di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C E, Thompson, Michelle L, Chassevent, Anna, Smith-Hicks, Constance L, de la Cruz, Xavier, Holtz, Alexander M, Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L, Heller, Elizabeth A, Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S, Agrawal, Pankaj B, Reinberg, Danny, Bhoj, Elizabeth J, Martínez-Balbás, Marian A, Akizu, Naiara
Published in Nature communications (11.07.2023)
Published in Nature communications (11.07.2023)
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O, Zaki, Maha S, Duan, Ruizhi, Zhu, Changlian, Xu, Yiran, Gao, Chao, Sepulveda-Morales, Tania, Maroofian, Reza, Alkhawaja, Issam A, Khawaja, Mariam, Alhalasah, Hunaida, Houlden, Henry, Madden, Jill A, Turchetti, Valentina, Marafi, Dana, Agrawal, Pankaj B, Schatz, Ulrich, Rotenberg, Ari, Rotenberg, Joshua, Mancini, Grazia M S, Bakhtiari, Somayeh, Kruer, Michael, Thiffault, Isabelle, Hirsch, Steffen, Hempel, Maja, Stühn, Lara G, Haack, Tobias B, Posey, Jennifer E, Lupski, James R, Lee, Hyunpil, Sarn, Nicholas B, Eng, Charis, Gonzaga-Jauregui, Claudia, Zhang, Bin, Wang, Heng
Published in Human molecular genetics (04.10.2023)
Published in Human molecular genetics (04.10.2023)
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Sn, a maize bHLH gene, modulates anthocyanin and condensed tannin pathways in Lotus corniculatus
Robbins, Mark Paske, Paolocci, Francesco, Hughes, John‐Wayne, Turchetti, Valentina, Allison, Gordon, Arcioni, Sergio, Morris, Phillip, Damiani, Francesco
Published in Journal of experimental botany (02.01.2003)
Published in Journal of experimental botany (02.01.2003)
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