Publications by authors named "Tarja Linnankivi"

20Publications

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Hum Mutat 2016 09 27;37(9):884-8. Epub 2016 Jun 27.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/humu.23021DOI Listing
September 2016

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Neurology 2015 Jul 26;85(4):306-15. Epub 2015 Jun 26.

From the Department of Medical Genetics, Haartman Institute (A.-K.A., H.T.), Folkhälsan Institute of Genetics and Neuroscience Center (A.-K.A., A.L., A.-E.L.), Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (T.H., P.I., A.L., E.Y., A.-E.L.), University of Helsinki; Departments of Clinical Genetics (A.-K.A.) and Neurology (A.S.), Helsinki University Central Hospital; Department of Pediatric Neurology (T. Linnankivi, P.I., T. Lönnqvist, H.P.), Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Finland; Department of Biochemistry and Molecular Genetics (R.L.F., M. Simonović), University of Illinois at Chicago; Department of Molecular Biophysics and Biochemistry (Y.L., D.S.), Yale University, New Haven, CT; Norio Centre (M. Somer), Department of Medical Genetics, Helsinki, Finland; Turku Centre for Biotechnology (D.M.-P., G.L.C.), University of Turku and Åbo Akademi University; Department of Pediatric Neurology (M.L.), South Karelia Central Hospital, Lappeenranta; Department of Radiology (L.V.), HUS Medical Imaging Center, Helsinki; and Department of Pathology (A.P.), HUSLAB and University of Helsinki, Finland. G.L.C. is currently affiliated with Van't Hoff Institute for Molecular Sciences, University of Amsterdam, the Netherlands.

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http://www.neurology.org/content/85/4/306.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000178
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http://dx.doi.org/10.1212/WNL.0000000000001787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520820PMC
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.

BMC Med Genet 2014 Nov 18;15:124. Epub 2014 Nov 18.

Department of Pathology, Haartman Institute, University of Helsinki, and Laboratory of Helsinki and Uusimaa University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1186/s12881-014-0124-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429685PMC
November 2014

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

Am J Med Genet A 2012 Dec 19;158A(12):3119-25. Epub 2012 Nov 19.

Department of Pediatric Neurology, Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.35642DOI Listing
December 2012

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.

Am J Med Genet A 2011 Jun 26;155A(6):1322-8. Epub 2011 Apr 26.

Helsinki Medical Imaging Center, Helsinki University Hospital, Finland.

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http://dx.doi.org/10.1002/ajmg.a.33994DOI Listing
June 2011

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Am J Med Genet A 2006 Feb;140(4):331-9

Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.31072DOI Listing
February 2006

18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images.

J Magn Reson Imaging 2003 Oct;18(4):414-9

Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/jmri.10383DOI Listing
October 2003