PMC Articles for MedGen (Select 1823981) - PMC

Select item 56390741.

A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy

Young Ok Kim, Misun Yun, Jae-Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Woo

J Korean Med Sci. 2017 Nov; 32(11): 1885–1890. Published online 2017 Sep 1. doi: 10.3346/jkms.2017.32.11.1885

PMCID:: PMC5639074

Abstract Article PDF–1.6M

Select item 25645222.

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

S Türkmen, O Demirhan, K Hoffmann, A Diers, C Zimmer, K Sperling, S Mundlos

J Med Genet. 2006 May; 43(5): 461–464. Published online 2005 Dec 21. doi: 10.1136/jmg.2005.040030

PMCID:: PMC2564522

Abstract Article PDF–243K

Select item 29871803.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

Eur J Hum Genet. 2010 Feb; 18(2): 163–170. Published online 2009 Oct 7. doi: 10.1038/ejhg.2009.152

Correction in:: Eur J Hum Genet. 2010 Oct; 18(10): 1171.

Correction in:: Eur J Hum Genet. 2010 Feb; 18(2): 170.

PMCID:: PMC2987180

Abstract Article PDF–628K

Select item 35633204.

Angelman Syndrome: Mutations Influence Features in Early Childhood

Wen-Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, Sanjeev V. Kothare, Hye-Seung Lee, Mark P. Nespeca, Sarika U. Peters, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Lynne M. Bird

Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 4.

Published in final edited form as: Am J Med Genet A. 2011 Jan; 155A(1): 81–90. doi: 10.1002/ajmg.a.33775

PMCID:: PMC3563320

Abstract Article PDF–65K

Select item 40195625.

Natural course of pontocerebellar hypoplasia type 2A

Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin, Ingeborg Krägeloh-Mann

Orphanet J Rare Dis. 2014; 9: 70. Published online 2014 May 5. doi: 10.1186/1750-1172-9-70

PMCID:: PMC4019562

Abstract Article PDF–907K

Select item 42437086.

Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway

Gregory M. Enns, Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Farah R. Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan Bernstein, Mena Scavina, Rhonda S. Walter, Audrey Bibb, Melanie Jones, Madhuri Hegde, Brett H. Graham, Anna C. Need, Angelica Oviedo, Christian P. Schaaf, Sean Boyle, Atul J. Butte, Rong Chen, Michael J. Clark, Rajini Haraksingh, Tina M. Cowan, FORGE Canada Consortium, Ping He, Sylvie Langlois, Huda Y. Zoghbi, Michael Snyder, Richard Gibbs, Hudson H. Freeze, David B. Goldstein

Genet Med. Author manuscript; available in PMC 2014 Nov 25.

Published in final edited form as: Genet Med. 2014 Oct; 16(10): 751–758. Published online 2014 Mar 20. doi: 10.1038/gim.2014.22

Correction in:: volume 16 on page 568

PMCID:: PMC4243708

Abstract Article PDF–763K

Select item 45479167.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Deana Li, David Amaral, Francesca Cristofoli, Hilde Peeters, Eric Haan, Corrado Romano, Heather C. Mefford, Ingrid Scheffer, Jozef Gecz, Bert B.A. de Vries, Evan E. Eichler

Mol Psychiatry. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Mol Psychiatry. 2016 Jan; 21(1): 126–132. Published online 2015 Feb 24. doi: 10.1038/mp.2015.5

PMCID:: PMC4547916

Abstract Article PDF–477K

Select item 49910348.

Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G. Gleeson, Bülent Kara

Turk J Pediatr. Author manuscript; available in PMC 2016 Aug 19.

Published in final edited form as: Turk J Pediatr. 2015 May-Jun; 57(3): 286–289.

PMCID:: PMC4991034

Abstract Article PDF–259K

Select item 50110459.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, The FREX Consortium, Antonio Miranda-Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau

Am J Hum Genet. 2016 Sep 1; 99(3): 695–703. Published online 2016 Aug 18. doi: 10.1016/j.ajhg.2016.06.030

PMCID:: PMC5011045

Abstract Article PDF–1.7M

Select item 1099453310.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

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

Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380

PMCID:: PMC10994533

Abstract Article PDF–2.1M

Select item 650703911.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian

Am J Hum Genet. 2019 May 2; 104(5): 948–956. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.03.005

PMCID:: PMC6507039

Abstract Article PDF–887K

Select item 699050412.

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice

Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hsu

Acta Neuropathol Commun. 2020; 8: 6. Published online 2020 Jan 30. doi: 10.1186/s40478-020-0883-3

PMCID:: PMC6990504

Abstract Article PDF–3.2M

Select item 702607813.

Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome

E. L. Berg, M. C. Pride, S. P. Petkova, R. D. Lee, N. A. Copping, Y. Shen, A. Adhikari, T. A. Fenton, L. R. Pedersen, L. S. Noakes, B. J. Nieman, J. P. Lerch, S. Harris, H. A. Born, M. M. Peters, P. Deng, D. L. Cameron, K. D. Fink, U. Beitnere, H. O’Geen, A. E. Anderson, S. V. Dindot, K. R. Nash, E. J. Weeber, M. Wöhr, J. Ellegood, D. J. Segal, J. L. Silverman

Transl Psychiatry. 2020; 10: 39. Published online 2020 Jan 27. doi: 10.1038/s41398-020-0720-2

PMCID:: PMC7026078

Abstract Article PDF–2.5M

Select item 807294314.

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

Carlotta Spagnoli, Carlo Fusco, Antonio Percesepe, Vincenzo Leuzzi, Francesco Pisani

Int J Mol Sci. 2021 Apr; 22(8): 4202. Published online 2021 Apr 18. doi: 10.3390/ijms22084202

PMCID:: PMC8072943

Abstract Article PDF–659K

Select item 820639015.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Holger Hengel, Shabab B. Hannan, Sarah Dyack, Sara B. MacKay, Ulrich Schatz, Martin Fleger, Andreas Kurringer, Ghassan Balousha, Zaid Ghanim, Fowzan S. Alkuraya, Hamad Alzaidan, Hessa S. Alsaif, Tadahiro Mitani, Sevcan Bozdogan, Davut Pehlivan, James R. Lupski, Joseph J. Gleeson, Mohammadreza Dehghani, Mohammad Y.V. Mehrjardi, Elliott H. Sherr, Kendall C. Parks, Emanuela Argilli, Amber Begtrup, Hamid Galehdari, Osama Balousha, Gholamreza Shariati, Neda Mazaheri, Reza A. Malamiri, Alistair T. Pagnamenta, Helen Kingston, Siddharth Banka, Adam Jackson, Mathew Osmond, Care4Rare Canada Consortium, Genomics England Research Consortium, Angelika Rieß, Tobias B. Haack, Thomas Nägele, Stefanie Schuster, Stefan Hauser, Jakob Admard, Nicolas Casadei, Ana Velic, Boris Macek, Stephan Ossowski, Henry Houlden, Reza Maroofian, Ludger Schöls

Am J Hum Genet. 2021 Jun 3; 108(6): 1069–1082. Published online 2021 May 21. doi: 10.1016/j.ajhg.2021.04.024

PMCID:: PMC8206390

Abstract Article PDF–2.3M

Select item 860897516.

Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome

Nycole A. Copping, Stephanie M. McTighe, Kyle D. Fink, Jill L. Silverman

Neurotherapeutics. 2021 Jul; 18(3): 1535–1547. Published online 2021 Sep 15. doi: 10.1007/s13311-021-01082-x

PMCID:: PMC8608975

Abstract Article PDF–1.0M

Select item 994870017.

Unique Features of the Gut Microbiome Characterized in Animal Models of Angelman Syndrome

Ulrika Beitnere, Brayan Vilanova-Cuevas, Sarah G. Christian, Clint Taylor, Elizabeth L. Berg, Nycole A. Copping, Scott V. Dindot, Jill L. Silverman, Mélanie G. Gareau, David J. Segal

mSystems. 2023 Jan-Feb; 8(1): e00608-22. Published online 2023 Jan 4. doi: 10.1128/msystems.00608-22

PMCID:: PMC9948700

Abstract Article PDF–2.3M

Select item 1057947918.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito

J Med Genet. 2023 Oct; 60(10): 965–973. Published online 2023 May 16. doi: 10.1136/jmg-2022-109132

PMCID:: PMC10579479

Abstract Article PDF–3.1M

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