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Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 81080082.

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B Hufnagel, Gavin Arno, Nichole D Hein, Joshua Hersheson, Megana Prasad, Yvonne Anderson, Laura A Krueger, Louise C Gregory, Corinne Stoetzel, Thomas J Jaworek, Sarah Hull, Abi Li, Vincent Plagnol, Christi M Willen, Thomas M Morgan, Cynthia A Prows, Rashmi S Hegde, Saima Riazuddin, Gregory A Grabowski, Rudy J Richardson, Klaus Dieterich, Taosheng Huang, Tamas Revesz, J P Martinez-Barbera, Robert A Sisk, Craig Jefferies, Henry Houlden, Mehul T Dattani, John K Fink, Helene Dollfus, Anthony T Moore, Zubair M Ahmed

J Med Genet. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: J Med Genet. 2015 Feb; 52(2): 85–94. Published online 2014 Dec 5. doi: 10.1136/jmedgenet-2014-102856

PMCID:: PMC8108008

Abstract Article PDF–1.7M

Select item 69064633.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke I. Schouten, Judith van Gaalen, Rowdy P. P. Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck-Zwarts, Christine de Die-Smulders, Eva H. Brilstra, Corien C. Verschuuren, Bert B. A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A. Duijkers, B. Jaeger, Jolanda H. Schieving, Bart P. van de Warrenburg, Erik-Jan Kamsteeg

Eur J Hum Genet. 2020 Jan; 28(1): 40–49. Published online 2019 Sep 5. doi: 10.1038/s41431-019-0497-z

PMCID:: PMC6906463

Abstract Article PDF–947K

Select item 62963314.

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome

Uirá S. Melo, Lucia I. Macedo-Souza, Thalita Figueiredo, Alysson R. Muotri, Joseph G. Gleeson, Gabriela Coux, Pablo Armas, Nora B. Calcaterra, João P. Kitajima, Simone Amorim, Thiago R. Olávio, Karina Griesi-Oliveira, Giuliana C. Coatti, Clarissa R.R. Rocha, Marinalva Martins-Pinheiro, Carlos F.M. Menck, Maha S. Zaki, Fernando Kok, Mayana Zatz, Silvana Santos

Hum Mol Genet. 2015 Dec 15; 24(24): 6877–6885. Published online 2015 Sep 18. doi: 10.1093/hmg/ddv388

PMCID:: PMC6296331

Abstract Article PDF–429K

Select item 59457755.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A. Berry, Guntram Borck, Katherine L. Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M. Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R. Lemke, Kerstin Kutsche

Eur J Hum Genet. 2018 May; 26(5): 695–708. Published online 2018 Feb 20. doi: 10.1038/s41431-018-0098-2

PMCID:: PMC5945775

Abstract Article PDF–3.9M

Select item 59456236.

ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree

Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A. Nazlı Başak

Eur J Hum Genet. 2018 May; 26(5): 745–748. Published online 2018 Feb 16. doi: 10.1038/s41431-018-0107-5

PMCID:: PMC5945623

Abstract Article PDF–534K

Select item 56821187.

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

Ricardo H. Roda, Alice B. Schindler, Craig Blackstone

Ann Clin Transl Neurol. 2017 Nov; 4(11): 821–824. Published online 2017 Oct 14. doi: 10.1002/acn3.452

PMCID:: PMC5682118

Abstract Article PDF–249K

Select item 56124248.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

Carlo Rinaldi, Thomas Schmidt, Alan J. Situ, Janel O. Johnson, Philip R. Lee, Ke-lian Chen, Laura C. Bott, Rut Fadó, George H. Harmison, Sara Parodi, Christopher Grunseich, Benoît Renvoisé, Leslie G. Biesecker, Giuseppe De Michele, Filippo M. Santorelli, Alessandro Filla, Giovanni Stevanin, Alexandra Dürr, Alexis Brice, Núria Casals, Bryan J. Traynor, Craig Blackstone, Tobias S. Ulmer, Kenneth H. Fischbeck

JAMA Neurol. Author manuscript; available in PMC 2017 Sep 25.

Published in final edited form as: JAMA Neurol. 2015 May; 72(5): 561–570. doi: 10.1001/jamaneurol.2014.4769

Correction in:: JAMA Neurol. 2015 May; 72(5): 608.

PMCID:: PMC5612424

Abstract Article PDF–1.3M

Select item 53931469.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Helen M. Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa

Hum Mol Genet. 2017 Apr 15; 26(8): 1432–1443. Published online 2017 Jan 31. doi: 10.1093/hmg/ddx042

PMCID:: PMC5393146

Abstract Article PDF–910K

Select item 535986810.

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem

BMC Med Genet. 2017; 18: 33. Published online 2017 Mar 21. doi: 10.1186/s12881-017-0395-6

PMCID:: PMC5359868

Abstract Article PDF–775K

Select item 462824411.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

Nyamkhishig Sambuughin, Lev G. Goldfarb, Tatiana M. Sivtseva, Tatiana K. Davydova, Vsevolod A. Vladimirtsev, Vladimir L. Osakovskiy, Al’bina P. Danilova, Raisa S. Nikitina, Anastasia N. Ylakhova, Margarita P. Diachkovskaya, Anna C. Sundborger, Neil M. Renwick, Fyodor A. Platonov, Jenny E. Hinshaw, Camilo Toro

BMC Neurol. 2015; 15: 223. Published online 2015 Oct 30. doi: 10.1186/s12883-015-0481-3

PMCID:: PMC4628244

Abstract Article PDF–2.6M

Select item 455375612.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stevanin

Brain. 2015 Aug; 138(8): 2191–2205. Published online 2015 May 30. doi: 10.1093/brain/awv143

PMCID:: PMC4553756

Abstract Article PDF–901K

Select item 438007013.

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Katia Hardies, Patrick May, Tania Djémié, Oana Tarta-Arsene, Tine Deconinck, Dana Craiu, AR working group of the EuroEPINOMICS RES Consortium, Ingo Helbig, Arvid Suls, Rudy Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, AR working group of the EuroEPINOMICS RES Consortium, Zaid Afawi, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Christel Depienne, Carolien G.F. De Kovel, Petia Dimova, Rosa Guerrero-López, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jahn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna-Elina Lehesjoki, Johannes Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, Jose M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah Von Spiczak, Yvonne Weber, Federico Zara

Hum Mol Genet. 2015 Apr 15; 24(8): 2218–2227. Published online 2014 Dec 30. doi: 10.1093/hmg/ddu740

PMCID:: PMC4380070

Abstract Article PDF–436K

Select item 416954314.

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Tahir Naeem Khan, Joakim Klar, Muhammad Tariq, Shehla Anjum Baig, Naveed Altaf Malik, Raja Yousaf, Shahid Mahmood Baig, Niklas Dahl

Eur J Hum Genet. 2014 Oct; 22(10): 1180–1184. Published online 2014 Jan 29. doi: 10.1038/ejhg.2014.5

PMCID:: PMC4169543

Abstract Article PDF–696K

Select item 415757215.

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew D. Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hulya Kayserili, Jumana Y. Al-Aama, Ghada M. H. Abdel-Salam, Ariana Karminejad, Majdi Kara, Bulent Kara, Bita Bozorgmehri, Tawfeg Ben-Omran, Faezeh Mojahedi, Iman Gamal El Din Mahmoud, Naima Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al-Allawi, P.S. Bindu, Matloob Azam, Murat Gunel, Ahmet Caglayan, Kaya Bilguvar, Aslihan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily G. Spencer, Rasim O. Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Durr, Alexis Brice, Giovanni Stevanin, Stacy B. Gabriel, Trey Ideker, Joseph G. Gleeson

Science. Author manuscript; available in PMC 2014 Sep 8.

Published in final edited form as: Science. 2014 Jan 31; 343(6170): 506–511. doi: 10.1126/science.1247363

PMCID:: PMC4157572

Abstract Article PDF–1.3M

Select item 414199416.

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer-Grumbach, Stephan Zuchner, Kevin G. Shields, Mary M. Reilly, Henry Houlden

Neurology. 2014 Aug 12; 83(7): 612–619. doi: 10.1212/WNL.0000000000000691

PMCID:: PMC4141994

Abstract Article PDF–965K

Select item 413206717.

PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

Miaoxin Li, Philip Wing-Lok Ho, Shirley Yin-Yu Pang, Zero Ho-Man Tse, Michelle Hiu-Wai Kung, Pak-Chung Sham, Shu-Leong Ho

PLoS One. 2014; 9(8): e104790. Published online 2014 Aug 13. doi: 10.1371/journal.pone.0104790

PMCID:: PMC4132067

Abstract Article PDF–385K

Select item 410525618.

Motor protein mutations cause a new form of hereditary spastic paraplegia

Andrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, Tobias Lindig, Jennifer Reichbauer, Adriana P. Rebelo, Michael A. Gonzalez, Yasar Zorlu, Burcak Ozes, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Ludger Schöls, Rebecca Schüle

Neurology. 2014 Jun 3; 82(22): 2007–2016. doi: 10.1212/WNL.0000000000000479

PMCID:: PMC4105256

Abstract Article PDF–1.0M

Select item 400672819.

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita, Rami Abou Jamra

PLoS Genet. 2014 May; 10(5): e1004320. Published online 2014 May 1. doi: 10.1371/journal.pgen.1004320

PMCID:: PMC4006728

Abstract Article PDF–1.9M

Select item 392865720.

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Typhaine Esteves, Alexandra Durr, Emeline Mundwiller, José L. Loureiro, Maxime Boutry, Michael A. Gonzalez, Julie Gauthier, Khalid H. El-Hachimi, Christel Depienne, Marie-Paule Muriel, Rafael F. Acosta Lebrigio, Marion Gaussen, Anne Noreau, Fiorella Speziani, Alexandre Dionne-Laporte, Jean-François Deleuze, Patrick Dion, Paula Coutinho, Guy A. Rouleau, Stephan Zuchner, Alexis Brice, Giovanni Stevanin, Frédéric Darios

Am J Hum Genet. 2014 Feb 6; 94(2): 268–277. doi: 10.1016/j.ajhg.2013.12.005

PMCID:: PMC3928657

Abstract Article PDF–1.7M

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