P133: A homozygous recurrent in-frame deletion in MED22 causes a novel neurodevelopmental disorder

Autor: Elisa Cali

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100162- (2023)

Externí odkaz: https://doaj.org/article/10b5df5a13b64a598d58ac36d7c85849

P134: Biallelic pathogenic variants in ITFG2 are associated with a a syndromic megalencephalic neurodevelopmental syndrome

Autor: Elisa Cali

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100163- (2023)

Externí odkaz: https://doaj.org/article/a360217eacad4b23841485ab87c70d9d

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Autor: Iqbal, Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar

Publikováno v: Genes; Volume 14; Issue 7; Pages: 1404

Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular ab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::b9fc448e8d7de3122c08818d155afd96

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Autor: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Publikováno v: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142

Chromatinopathy; Syndromic neurodevelopmental disorder; Syndromic obesity Cromatinopatia; Trastorn sindròmic del neurodesenvolupament; Obesitat sindròmica Cromatinopatía; Trastorno sindrómico del neurodesarrollo; Obesidad sindrómica Purpose Prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Autor: Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, Uluç Yis, Hoda Tomoum, Hanan Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horvath, Semra Hiz, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian

Publikováno v: Magrinelli, F, Cali, E, Braga, V L, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, F M, Povoas Barsottini, O G, Taylor, R W, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, J M, Zaki, M S, Kok, F, Bhatia, K P, Wissinger, B, Sergeant, K, Haack, T B, Horvath, R, Hiz, S, Alkuraya, F S, Houlden, H, Pedroso, J L & Maroofian, R 2022, ' Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy ', Movement Disorders Clinical Practice, vol. 9, no. 2, pp. 218-228 . https://doi.org/10.1002/mdc3.13398

Background Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, both phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1e8bb8862ff5a7211b2d88954591bc
https://curis.ku.dk/ws/files/305536910/Movement_Disord_Clin_Pract_2021_Magrinelli_Biallelic_Loss_of_Function_NDUFA12_Variants_Cause_a_Wide_Phenotypic.pdf