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Select item 83380651.

Infantile-onset spinocerebellar ataxia: MR and CT findings.

T Koskinen, L Valanne, L M Ketonen, H Pihko

AJNR Am J Neuroradiol. 1995 Aug; 16(7): 1427-33.

PMCID:: PMC8338065

Summary PDF–537K

Select item 49908132.

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

Sarah B. Pierce, Suleyman Gulsuner, Gail A. Stapleton, Tom Walsh, Ming K. Lee, Jessica B. Mandell, Augusto Morales, Rachel E. Klevit, Mary-Claire King, R. Curtis Rogers

Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4): a001107. doi: 10.1101/mcs.a001107

PMCID:: PMC4990813

Abstract Article PDF–1.3M

Select item 41027723.

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Mi-Hyun Park, Hae-Mi Woo, Young Bin Hong, Ji Hoon Park, Bo Ram Yoon, Jin-Mo Park, Jeong Hyun Yoo, Heasoo Koo, Jong-Hee Chae, Ki Wha Chung, Byung-Ok Choi, Soo Kyung Koo

Neurogenetics. 2014; 15(3): 171–182. Published online 2014 May 10. doi: 10.1007/s10048-014-0405-1

PMCID:: PMC4102772

Abstract Article PDF–1.9M

Select item 36581944.

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

Tua Vinther-Jensen, Jakob Ek, Morten Duno, Flemming Skovby, Lena E Hjermind, Jørgen E Nielsen, Troels Tolstrup Nielsen

Eur J Hum Genet. 2013 Jun; 21(6): 626–629. Published online 2012 Oct 10. doi: 10.1038/ejhg.2012.231

PMCID:: PMC3658194

Abstract Article PDF–701K

Select item 34246535.

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Jessica N. Hartley, Frances A. Booth, Marc R. Del Bigio, Aizeddin A. Mhanni

Case Rep Pediatr. 2012; 2012: 303096. Published online 2012 Aug 11. doi: 10.1155/2012/303096

PMCID:: PMC3424653

Abstract Article PDF–2.8M

Select item 67128016.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo

J Transl Med. 2019; 17: 290. Published online 2019 Aug 28. doi: 10.1186/s12967-019-2041-x

PMCID:: PMC6712801

Abstract Article PDF–1.6M

Select item 42484517.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami

Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036

PMCID:: PMC4248451

Abstract Article PDF–834K

Select item 32065708.

Zasp: A New Z-Band Alternatively Spliced PDZ-Motif Protein

Georgine Faulkner, Alberto Pallavicini, Elide Formentin, Anna Comelli, Chiara Ievolella, Silvia Trevisan, Gladis Bortoletto, Paolo Scannapieco, Michela Salamon, Vincent Mouly, Giorgio Valle, Gerolamo Lanfranchi

J Cell Biol. 1999 Jul 26; 146(2): 465–476. doi: 10.1083/jcb.146.2.465

PMCID:: PMC3206570

Abstract Article PDF–629K

Select item 29432969.

Disease Variants of the Human Mitochondrial DNA Helicase Encoded by C10orf2 Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity

Matthew J. Longley, Margaret M. Humble, Farida S. Sharief, William C. Copeland

J Biol Chem. 2010 Sep 24; 285(39): 29690–29702. Published online 2010 Jul 20. doi: 10.1074/jbc.M110.151795

PMCID:: PMC2943296

Abstract Article PDF–2.0M

Select item 263877110.

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Steffi Goffart, Helen M. Cooper, Henna Tyynismaa, Sjoerd Wanrooij, Anu Suomalainen, Johannes N. Spelbrink

Hum Mol Genet. 2009 Jan 15; 18(2): 328–340. Published online 2008 Oct 29. doi: 10.1093/hmg/ddn359

PMCID:: PMC2638771

Abstract Article PDF–1.0M

Select item 180145811.

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

K Nikali, A Suomalainen, J Terwilliger, T Koskinen, J Weissenbach, L Peltonen

Am J Hum Genet. 1995 May; 56(5): 1088–1095.

Correction in:: Am J Hum Genet. 1995 Jan; 56(1): 356.

PMCID:: PMC1801458

Summary Page Browse PDF–1.4M

Select item 711065412.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Abstract Article PDF–727K

Select item 1108108013.

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Gloria Zaffaroni, Alessandro Mannucci, Laura Koskenvuo, Borja de Lacy, Anna Maffioli, Tanya Bisseling, Elizabeth Half, Giulia Martina Cavestro, Laura Valle, Neil Ryan, Stefan Aretz, Karen Brown, Francesco Buttitta, Fatima Carneiro, Oonagh Claber, Ruth Blanco-Colino, Maxime Collard, Emma Crosbie, Miguel Cunha, Triantafyllos Doulias, Christina Fleming, Henriette Heinrich, Robert Hüneburg, Julie Metras, Iris Nagtegaal, Ionut Negoi, Maartje Nielsen, Gianluca Pellino, Luigi Ricciardiello, Abdurrahman Sagir, Luis Sánchez-Guillén, Toni T Seppälä, Peter Siersema, Benedikt Striebeck, Julian R Sampson, Andrew Latchford, Yann Parc, John Burn, Gabriela Möslein

Br J Surg. 2024 May; 111(5): znae070. Published online 2024 May 9. doi: 10.1093/bjs/znae070

Correction in:: Br J Surg. 2024 Oct; 111(10): znae263.

PMCID:: PMC11081080

Abstract Article PDF–2.5M

Select item 1106110314.

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume

Eur J Hum Genet. 2024 May; 32(5): 479–488. Published online 2024 Mar 5. doi: 10.1038/s41431-023-01507-5

Correction in:: Eur J Hum Genet. 2024 Aug 2

PMCID:: PMC11061103

Abstract Article PDF–728K

Select item 1101998315.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen

Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416

PMCID:: PMC11019983

Abstract Article PDF–1.4M

Select item 685728316.

Epilepsy in spinocerebellar ataxia type 8: a case report

Arun Swaminathan

J Med Case Rep. 2019; 13: 333. Published online 2019 Nov 15. doi: 10.1186/s13256-019-2270-x

PMCID:: PMC6857283

Abstract Article PDF–4.4M

Select item 628438617.

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

Jana Buzkova, Joni Nikkanen, Sofia Ahola, Anna H Hakonen, Ksenia Sevastianova, Topi Hovinen, Hannele Yki‐Järvinen, Kirsi H Pietiläinen, Tuula Lönnqvist, Vidya Velagapudi, Christopher J Carroll, Anu Suomalainen

EMBO Mol Med. 2018 Dec; 10(12): e9091. Published online 2018 Oct 29. doi: 10.15252/emmm.201809091

PMCID:: PMC6284386

Abstract Article PDF–2.6M

Select item 615133518.

Lauren Swan, John Cardinal, David Coman

Clin Pract. 2018 Jul 10; 8(3): 1071. Published online 2018 Aug 27. doi: 10.4081/cp.2018.1071

PMCID:: PMC6151335

Abstract Article PDF–84K

Select item 505917819.

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants

Juliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, Stuart E. H. Moore, Ruxandra Cardas, Yline Capri, Pauline Gaignard, Abdelhamid Slama, Catherine Delanoë, Hélène Ogier de Baulny, Nathalie Seta, Manuel Schiff, Laurent Servais

JIMD Rep. 2016; 29: 109–113. Published online 2016 Feb 27. doi: 10.1007/8904_2016_526

PMCID:: PMC5059178

Abstract Article PDF–144K

Select item 384013920.

Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease

Ji Sun Kim, Tae Ok Son, Jinyoung Youn, Chang-Seok Ki, Jin Whan Cho

J Clin Neurol. 2013 Oct; 9(4): 274–279. Published online 2013 Oct 31. doi: 10.3988/jcn.2013.9.4.274

PMCID:: PMC3840139

Abstract Article PDF–519K

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