Carina Wallgren-Pettersson

Carina Wallgren-Pettersson

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Carina Wallgren-Pettersson

Carina Wallgren-Pettersson

Publications by authors named "Carina Wallgren-Pettersson"

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77Publications

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Nemaline myopathies: a current view.

J Muscle Res Cell Motil 2019 Jun 21;40(2):111-126. Epub 2019 Jun 21.

Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10974-019-09519-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726674PMC
June 2019

Update on the Genetics of Congenital Myopathies.

Semin Pediatr Neurol 2019 04 17;29:12-22. Epub 2019 Jan 17.

The Folkhälsan Institute of Genetics, Folkhälsan Research Center, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.spen.2019.01.005DOI Listing
April 2019

Pregnancy and Delivery in Women With Congenital Myopathies.

Semin Pediatr Neurol 2019 04 16;29:23-29. Epub 2019 Jan 16.

The Folkhalsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.spen.2019.01.006DOI Listing
April 2019

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscul Disord 2019 02 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183056
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http://dx.doi.org/10.1016/j.nmd.2018.12.007DOI Listing
February 2019

Ethics in genetic counselling.

J Community Genet 2019 Jan 14;10(1):3-33. Epub 2018 Jun 14.

The Folkhaelsan Department of Medical Genetics, Topeliusgatan, 20 00250, Helsinki, Finland.

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http://dx.doi.org/10.1007/s12687-018-0371-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325035PMC
January 2019

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.

Muscle Nerve 2019 01 13;59(1):116-121. Epub 2018 Nov 13.

The Folkhälsan Institute of Genetics and Department of Medical and Clinical Genetics, Biomedicum Helsinki, University of Helsinki, P.O. Box 63, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1002/mus.26350DOI Listing
January 2019

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

J Neuromuscul Dis 2018;5(3):307-314

The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland.

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http://dx.doi.org/10.3233/JND-170298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087456PMC
November 2018

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Eur J Paediatr Neurol 2018 Nov 27;22(6):1095-1102. Epub 2018 Aug 27.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.08.002DOI Listing
November 2018

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.

Eur J Med Genet 2018 Oct 14;61(10):612-615. Epub 2018 Apr 14.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; The Folkhälsan Institute of Genetics, Biomedicum, Helsinki, Finland; Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183003
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http://dx.doi.org/10.1016/j.ejmg.2018.04.004DOI Listing
October 2018

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.

Sci Rep 2018 10 24;8(1):15728. Epub 2018 Oct 24.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK.

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http://dx.doi.org/10.1038/s41598-018-33281-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200726PMC
October 2018

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Am J Med Genet A 2018 08 28;176(8):1748-1752. Epub 2018 Jul 28.

Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.38840DOI Listing
August 2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Neuromuscul Disord 2018 07 16;28(7):614-618. Epub 2018 May 16.

The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2018.04.012DOI Listing
July 2018

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

Neuromuscul Disord 2018 04 25;28(4):323-326. Epub 2017 Dec 25.

The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2017.12.009DOI Listing
April 2018

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

Eur J Hum Genet 2016 Apr 22;24(4):574-80. Epub 2015 Jul 22.

The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2015.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929883PMC
April 2016

Clinical utility gene card for: Nemaline myopathy - update 2015.

Eur J Hum Genet 2015 Nov 25;23(11). Epub 2015 Feb 25.

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613474PMC
November 2015

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Eur J Med Genet 2015 Oct 25;58(10):556-61. Epub 2015 Sep 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.009DOI Listing
October 2015

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

J Hum Genet 2015 Mar 15;60(3):161-2. Epub 2015 Jan 15.

1] The Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/jhg.2014.120DOI Listing
March 2015

198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands.

Neuromuscul Disord 2013 Dec 29;23(12):1033-43. Epub 2013 Aug 29.

Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London, UK; Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, London, UK; Clinical Neuroscience Division, King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.08.006DOI Listing
December 2013

Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

Indian J Pediatr 2013 Aug 2;80(8):691-3. Epub 2012 Sep 2.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110002, India.

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http://dx.doi.org/10.1007/s12098-012-0867-9DOI Listing
August 2013

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Muscle Nerve 2012 Nov 31;46(5):730-7. Epub 2012 Aug 31.

Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI-00014, Finland.

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http://dx.doi.org/10.1002/mus.23380DOI Listing
November 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Clinical utility gene card for: nemaline myopathy.

Eur J Hum Genet 2012 Jun 18;20(6). Epub 2012 Apr 18.

Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355270PMC
June 2012

Nemaline myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):230-8

The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.spen.2011.10.004DOI Listing
December 2011

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Neuromuscul Disord 2011 Aug 2;21(8):556-62. Epub 2011 Jul 2.

The Folkhälsan Institute of Genetics and The Department of Medical Genetics, University of Helsinki, Haartman Institute, Finland.

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http://dx.doi.org/10.1016/j.nmd.2011.05.012DOI Listing
August 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

FASEB J 2011 Jun 24;25(6):1903-13. Epub 2011 Feb 24.

Department of Neuroscience, Clinical Neurophysiology, Uppsala University Hospital, Entrance 85, 3rd floor, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1096/fj.10-176727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219215PMC
June 2011

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Skelet Muscle 2011 Jun 20;1(1):23. Epub 2011 Jun 20.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA.

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http://skeletalmusclejournal.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/2044-5040-1-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156646PMC
June 2011

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Acta Neuropathol 2011 Feb 7;121(2):253-66. Epub 2010 Oct 7.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-010-0754-2DOI Listing
February 2011

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Neuromuscul Disord 2010 Jan 22;20(1):53-6. Epub 2009 Nov 22.

Department of Neuroscience, Neurology, University Hospital, Uppsala University, Uppsala, Sweden.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900659
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http://dx.doi.org/10.1016/j.nmd.2009.10.006DOI Listing
January 2010

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

Med Wieku Rozwoj 2009 Jan-Mar;13(1):5-10

Klinika Neonatologii i Intensywnej Terapii Noworodka Instytutu Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa.

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October 2009

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands.

Neuromuscul Disord 2009 Oct 14;19(10):721-9. Epub 2009 Aug 14.

Clinical Neuroscience Division, King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2009.06.373DOI Listing
October 2009

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Hum Mutat 2009 Sep;30(9):1267-77

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia.

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http://dx.doi.org/10.1002/humu.21059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784950PMC
September 2009

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

Neuromuscul Disord 2009 Apr 4;19(4):300-5. Epub 2009 Mar 4.

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.nmd.2009.02.002DOI Listing
April 2009

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

Neuromuscul Disord 2009 Mar 15;19(3):179-81. Epub 2009 Feb 15.

The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2008.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713598PMC
March 2009

Nebulin--a giant chameleon.

Adv Exp Med Biol 2008 ;642:28-39

Department of Biological and Environmental Sciences, Division of Genetics, University of Helsinki, Helsinki, Finland.

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February 2009

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Eur J Hum Genet 2008 Sep 2;16(9):1055-61. Epub 2008 Apr 2.

Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2008.60DOI Listing
September 2008

Centronuclear (myotubular) myopathy.

Orphanet J Rare Dis 2008 Sep 25;3:26. Epub 2008 Sep 25.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London, UK.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-3-2
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http://dx.doi.org/10.1186/1750-1172-3-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2572588PMC
September 2008

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nat Genet 2007 Sep 5;39(9):1134-9. Epub 2007 Aug 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, F-67400 Illkirch, France.

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http://www.nature.com/doifinder/10.1038/ng2086
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http://dx.doi.org/10.1038/ng2086DOI Listing
September 2007

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

Neuromuscul Disord 2007 Jun 16;17(6):433-42. Epub 2007 Apr 16.

The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland, and Division of Neurology, University Hospital of Antwerp, Antwerpen, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2007.02.015DOI Listing
June 2007

Distal myopathy caused by homozygous missense mutations in the nebulin gene.

Brain 2007 Jun;130(Pt 6):1465-76

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awm094DOI Listing
June 2007

Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128.

Genomics 2006 Oct 24;88(4):489-95. Epub 2006 Jul 24.

The Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, FIN-00014 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ygeno.2006.06.008DOI Listing
October 2006

138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands.

Neuromuscul Disord 2006 Jan 20;16(1):54-60. Epub 2005 Dec 20.

The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, FIN-00251 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2005.10.006DOI Listing
January 2006

Congenital myopathies.

Eur J Paediatr Neurol 2005 13;9(1):27-8. Epub 2004 Dec 13.

Department of Medical Genetics, University of Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ejpn.2004.10.007DOI Listing
May 2005

[Updating recommendation for respiratory care of patients with neuromuscular disorders].

Duodecim 2004 ;120(13):1547-8

Folkhälsanin perinöllisyystieteen laitos ja Lääketieteellisen genetiikan osasto, Helsinki.

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February 2005

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

Eur J Hum Genet 2004 Sep;12(9):744-51

The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, FIN-00014 Helsinki, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5201242DOI Listing
September 2004

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands.

Neuromuscul Disord 2004 Jan;14(1):56-69

The Folkhälsan Department of Medical Genetics, University of Helsinki, PO Box 211, Topeliuksenkatu 20, FIN-00251 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2003.09.003DOI Listing
January 2004

Gene table: congenital myopathies.

Eur J Paediatr Neurol 2003 ;7(3):143-4

Department of Medical Genetics, University of Helsinki and the Folkhälsan, Department of Medical Genetics, Helsinki, Finland.

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http://dx.doi.org/10.1016/s1090-3798(03)00044-8DOI Listing
September 2003

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Neuromuscul Disord 2003 Sep;13(7-8):519-31

Department of Biology, University of York, York, YO10 5DD, UK.

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http://dx.doi.org/10.1016/s0960-8966(03)00101-9DOI Listing
September 2003

109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands.

Neuromuscul Disord 2003 Aug;13(6):501-7

The Folkhälsan Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/s0960-8966(03)00007-5DOI Listing
August 2003

Genotype-phenotype correlations in X-linked myotubular myopathy.

Neuromuscul Disord 2002 Dec;12(10):939-46

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1016/s0960-8966(02)00153-0DOI Listing
December 2002

Nebulin mutations in autosomal recessive nemaline myopathy: an update.

Neuromuscul Disord 2002 Oct;12(7-8):680-6

Department of Medical Genetics, University of Helsinki and the Folkhälsan Institute of Genetics, P.O. Box 211, FIN-00251, Helsinki, Finland.

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http://dx.doi.org/10.1016/s0960-8966(02)00066-4DOI Listing
October 2002

Nemaline and myotubular myopathies.

Semin Pediatr Neurol 2002 Jun;9(2):132-44

Department of Medical Genetics, University of Helsinki, Finland.

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http://dx.doi.org/10.1053/spen.2002.33804DOI Listing
June 2002

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Neuromuscul Disord 2002 Feb;12(2):151-8

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/s0960-8966(01)00252-8DOI Listing
February 2002