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Select item 42428311.

Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration

Ana Clara Fernandes, Valerie Uytterhoeven, Sabine Kuenen, Yu-Chun Wang, Jan R. Slabbaert, Jef Swerts, Jaroslaw Kasprowicz, Stein Aerts, Patrik Verstreken

J Cell Biol. 2014 Nov 24; 207(4): 453–462. doi: 10.1083/jcb.201406026

PMCID:: PMC4242831

Abstract Article PDF–2.4M

Select item 110713292.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu

BMC Pediatr. 2024; 24: 309. Published online 2024 May 6. doi: 10.1186/s12887-024-04779-y

PMCID:: PMC11071329

Abstract Article PDF–1.6M

Select item 58389843.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J. Rodenburg, Dzhamilja Safiulina, Tim M. Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B. Haack, Katrin Õunap

Eur J Hum Genet. 2018 Mar; 26(3): 407–419. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0001-6

PMCID:: PMC5838984

Abstract Article PDF–1.8M

Select item 53150854.

Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures

Almundher Al-Maawali, Brenda J. Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida, Joan M. Stoler

Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 17.

Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 435–440. Published online 2015 Oct 13. doi: 10.1002/ajmg.a.37422

PMCID:: PMC5315085

Abstract Article PDF–341K

Select item 51365155.

Unresolved questions regarding human hereditary deafness

AU Rehman, TB Friedman, AJ Griffith

Oral Dis. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Oral Dis. 2017 Jul; 23(5): 551–558. Published online 2016 Jul 11. doi: 10.1111/odi.12516

PMCID:: PMC5136515

Abstract Article PDF–563K

Select item 45707746.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat

PLoS One. 2015; 10(9): e0138072. Published online 2015 Sep 15. doi: 10.1371/journal.pone.0138072

PMCID:: PMC4570774

Abstract Article PDF–941K

Select item 45649887.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

Am J Hum Genet. 2015 Sep 3; 97(3): 457–464. Published online 2015 Aug 20. doi: 10.1016/j.ajhg.2015.07.014

PMCID:: PMC4564988

Abstract Article PDF–2.2M

Select item 43901628.

Chromodomain Helicase DNA-Binding Proteins in Stem Cells and Human Developmental Diseases

Joseph A. Micucci, Ethan D. Sperry, Donna M. Martin

Stem Cells Dev. 2015 Apr 15; 24(8): 917–926. Published online 2015 Jan 8. doi: 10.1089/scd.2014.0544

PMCID:: PMC4390162

Abstract Article PDF–338K

Select item 42980339.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

J Helen Cross, Ruchi Arora, Rolf A Heckemann, Roxana Gunny, Kling Chong, Lucinda Carr, Torsten Baldeweg, Ann-Marie Differ, Nicholas Lench, Sophie Varadkar, Tony Sirimanna, Evangeline Wassmer, Sally A Hulton, Milos Ognjanovic, Venkateswaran Ramesh, Sally Feather, Robert Kleta, Alexander Hammers, Detlef Bockenhauer

Dev Med Child Neurol. 2013 Sep; 55(9): 846–856. Published online 2013 Mar 14. doi: 10.1111/dmcn.12171

PMCID:: PMC4298033

Abstract Article PDF–728K

Select item 618882210.

Eliza Gordon-Lipkin, Julie S. Cohen, Siddharth Srivastava, Bruno P. Soares, Eric Levey, Ali Fatemi

J Child Neurol. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: J Child Neurol. 2018 Nov; 33(13): 825–831. Published online 2018 Sep 5. doi: 10.1177/0883073818791099

PMCID:: PMC6188822

Abstract Article PDF–180K

Select item 422563311.

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna C. Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J. Duncan, Yun Jin Pai, Jorge M. Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W. Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier

Am J Hum Genet. 2014 Nov 6; 95(5): 611–621. doi: 10.1016/j.ajhg.2014.10.007

Correction in:: Am J Hum Genet. 2015 Jun 4; 96(6): 1008–1009.

PMCID:: PMC4225633

Abstract Article PDF–1.7M

Select item 413374312.

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, Maximilian Muenke

Pediatr Neurol. Author manuscript; available in PMC 2014 Aug 15.

Published in final edited form as: Pediatr Neurol. 2012 Nov; 47(5): 355–361. doi: 10.1016/j.pediatrneurol.2012.07.004

PMCID:: PMC4133743

Abstract Article PDF–50K

Select item 389532413.

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M Campeau, Dalia Kasperaviciute, James T Lu, Lindsay C Burrage, Choel Kim, Mutsuki Hori, Berkley R Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wisniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L Murray, Gabriela M Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G Newman, Sanjeev S Bhaskar, Jonathan E Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C Hennekam, Richard A Gibbs, Brendan H Lee, Sanjay M Sisodiya

Lancet Neurol. 2014 Jan; 13(1): 44–58. doi: 10.1016/S1474-4422(13)70265-5

PMCID:: PMC3895324

Abstract Article

Select item 326015314.

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss

PLoS One. 2012; 7(1): e28936. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0028936

PMCID:: PMC3260153

Abstract Article PDF–6.2M

Select item 297897115.

SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System

Efrat Birk, Adi Har-Zahav, Chiara M. Manzini, Metsada Pasmanik-Chor, Liora Kornreich, Christopher A. Walsh, Konrad Noben-Trauth, Adi Albin, Amos J. Simon, Laurence Colleaux, Yair Morad, Limor Rainshtein, David J. Tischfield, Peter Wang, Nurit Magal, Idit Maya, Noa Shoshani, Gideon Rechavi, Doron Gothelf, Gal Maydan, Mordechai Shohat, Lina Basel-Vanagaite

Am J Hum Genet. 2010 Nov 12; 87(5): 694–700. doi: 10.1016/j.ajhg.2010.10.005

PMCID:: PMC2978971

Abstract Article PDF–972K

Select item 265655916.

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Ute I. Scholl, Murim Choi, Tiewen Liu, Vincent T. Ramaekers, Martin G. Häusler, Joanne Grimmer, Sheldon W. Tobe, Anita Farhi, Carol Nelson-Williams, Richard P. Lifton

Proc Natl Acad Sci U S A. 2009 Apr 7; 106(14): 5842–5847. Published online 2009 Mar 16. doi: 10.1073/pnas.0901749106

PMCID:: PMC2656559

Abstract Article PDF–651K

Select item 49372917.

Cockayne's syndrome: case report

L. Crome, G. C. Kanjilal

J Neurol Neurosurg Psychiatry. 1971 Apr; 34(2): 171–178. doi: 10.1136/jnnp.34.2.171

PMCID:: PMC493729

Summary Page Browse PDF–2.5M

Select item 834595618.

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

Frederik Braun, Andreas Hentschel, Albert Sickmann, Theodore Marteau, Swantje Hertel, Fabian Förster, Holger Prokisch, Matias Wagner, Saskia Wortmann, Adela Della Marina, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt

Int J Mol Sci. 2021 Aug; 22(15): 7835. Published online 2021 Jul 22. doi: 10.3390/ijms22157835

PMCID:: PMC8345956

Abstract Article PDF–1.6M

Select item 1099453319.

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 1033034420.

Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, Allan Bayat

Clin Genet. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Clin Genet. 2023 Aug; 104(2): 186–197. Published online 2023 May 10. doi: 10.1111/cge.14353

PMCID:: PMC10330344

Abstract Article PDF–1.7M

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