Mar Tulinius

Mar Tulinius

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Mar Tulinius

Mar Tulinius

Publications by authors named "Mar Tulinius"

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NFL is a marker of treatment response in children with SMA treated with nusinersen.

J Neurol 2019 Sep 23;266(9):2129-2136. Epub 2019 May 23.

Queen Silvia Children'S Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-019-09389-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687695PMC
September 2019

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.

Neurology 2019 Sep 26;93(13):e1312-e1323. Epub 2019 Aug 26.

From ReveraGen Biopharma (E.P.H., J.M.M., K.N., J.v.d.A., L.S.C., J.M.D.), Rockville, MD; Binghamton University-SUNY (E.P.H., K.N.), NY: Camden Group (B.D.S., L.J.M.-G.), LLC, St. Louis, MO; Duke University (E.C.S.), Durham, NC; University of Texas Southwestern (D.C.), Dallas; Alberta Children's Hospital (J.K.M.), Calgary, Canada; University of California Davis (C.M.M.), Sacramento; Ann & Robert H. Lurie Children's Hospital (N.L.K.), Chicago, IL; Nemours Children's Hospital (R.S.F.), Orlando, FL; John Walton Muscular Dystrophy Research Centre (M.G., K.B.), Newcastle University, Newcastle-Upon-Tyne, UK; Queen Silvia Children's Hospital (M.T.), Gothenburg, Sweden; Schneider Children's Medical Center (Y.N.), Tel Aviv University, Israel; Royal Children's Hospital and Murdoch Children's Research Institute (M.M.R.), Melbourne, Australia; The Children's Hospital at Westmead (R.W.), Sydney, Australia; TRiNDS LLC (A.L.S., L.P.M., A.A., M.S., C.S.), Kensington, MD; Summit Analytical (M.J., P.S.), Denver, CO; Children's National Health System (J.v.d.A., L.S.C., A.C., H.G.-D.), Washington, DC; and University of Pittsburgh and Department of Veterans Affairs Medical Center (P.R.C.), PA.

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http://dx.doi.org/10.1212/WNL.0000000000008168DOI Listing
September 2019

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

Mitochondrion 2019 Jul 4;47:76-81. Epub 2019 May 4.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S15677249183025
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http://dx.doi.org/10.1016/j.mito.2019.04.012DOI Listing
July 2019

Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients.

Mitochondrion 2019 05 9;46:228-235. Epub 2018 Jul 9.

Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, Gothenburg, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S15677249183002
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http://dx.doi.org/10.1016/j.mito.2018.07.002DOI Listing
May 2019

Quality of life of patients with spinal muscular atrophy: A systematic review.

Eur J Paediatr Neurol 2019 May 21;23(3):347-356. Epub 2019 Mar 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798193000
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http://dx.doi.org/10.1016/j.ejpn.2019.03.004DOI Listing
May 2019

A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.

Acta Paediatr 2019 Feb 2;108(2):224-230. Epub 2018 Oct 2.

Department of Pediatrics, Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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http://doi.wiley.com/10.1111/apa.14568
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http://dx.doi.org/10.1111/apa.14568DOI Listing
February 2019

A multinational study on motor function in early-onset FSHD.

Neurology 2018 04 14;90(15):e1333-e1338. Epub 2018 Mar 14.

From the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894929PMC
April 2018

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(7):625-635

From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

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http://dx.doi.org/10.1056/NEJMoa1710504DOI Listing
February 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2017-104891DOI Listing
January 2018

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

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http://www.nejm.org/doi/10.1056/NEJMoa1702752
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http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

Neuromuscul Disord 2017 Sep 10;27(9):843-847. Epub 2017 May 10.

Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2017.05.004DOI Listing
September 2017

Ophthalmologic involvement in Leigh syndrome.

Acta Ophthalmol 2017 Feb 28;95(1):e76. Epub 2016 May 28.

Department of Pediatrics, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1111/aos.13124DOI Listing
February 2017

Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.

Acta Ophthalmol 2016 Sep 19;94(6):609-17. Epub 2016 Feb 19.

Institute of Neuroscience and Physiology/Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1111/aos.12983DOI Listing
September 2016

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Am J Med Genet A 2016 May 11;170A(5):1155-64. Epub 2016 Feb 11.

Department of Pathology, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.37593DOI Listing
May 2016

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.

Int J Biochem Cell Biol 2015 Jun 7;63:32-40. Epub 2015 Feb 7.

Institute of Genetic Medicine, Wellcome Trust Mitochondrial Research Centre, Newcastle University, Central Parkway NE1 3BZ Newcastle upon Tyne, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13572725150003
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http://dx.doi.org/10.1016/j.biocel.2015.01.025DOI Listing
June 2015

Early onset cardiomyopathy in females with Danon disease.

Neuromuscul Disord 2015 Jun 16;25(6):493-501. Epub 2015 Mar 16.

Department of Pathology, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2015.03.005DOI Listing
June 2015

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Mitochondrion 2015 Mar 20;21:33-40. Epub 2015 Jan 20.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.01.003DOI Listing
March 2015

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Front Genet 2015 6;6:21. Epub 2015 Feb 6.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki Helsinki, Finland ; Department of Medical Genetics, Haartman Institute, University of Helsinki Helsinki, Finland.

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http://dx.doi.org/10.3389/fgene.2015.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319469PMC
February 2015

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.

Mitochondrion 2013 Jul 24;13(4):364-71. Epub 2013 Apr 24.

Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, SE-416 85 Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.mito.2013.04.008DOI Listing
July 2013

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Eur J Hum Genet 2013 May 11;21(5):571-3. Epub 2012 Jul 11.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1038/ejhg.2012.153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641373PMC
May 2013

Mitochondrial encephalomyopathies.

Handb Clin Neurol 2007 ;86:125-65

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http://dx.doi.org/10.1016/S0072-9752(07)86006-4DOI Listing
October 2012

Distal arthrogryposis: clinical and genetic findings.

Acta Paediatr 2012 Aug 24;101(8):877-87. Epub 2012 May 24.

Department of Women's and Children's Health, Uppsala University Children's Hospital, Uppsala, Sweden.

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http://dx.doi.org/10.1111/j.1651-2227.2012.02708.xDOI Listing
August 2012

Phenotypic and genotypic variability in Alpers syndrome.

Eur J Paediatr Neurol 2012 Jul 10;16(4):379-89. Epub 2012 Jan 10.

Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, S-416 85 Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.ejpn.2011.12.006DOI Listing
July 2012

Ocular motor function in relation to gross motor function in congenital and childhood myotonic dystrophy type 1.

Acta Ophthalmol 2012 Jun 18;90(4):369-74. Epub 2010 Jun 18.

Department of Ophthalmology, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.

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http://doi.wiley.com/10.1111/j.1755-3768.2010.01956.x
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http://dx.doi.org/10.1111/j.1755-3768.2010.01956.xDOI Listing
June 2012

Bone mass development in patients with Duchenne and Becker muscular dystrophies: a 4-year clinical follow-up.

Acta Paediatr 2012 Apr 9;101(4):424-32. Epub 2011 Dec 9.

Department of Orthopaedics, Institute of Clinical Sciences, Sahlgrenska University Hospital/Östra, Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02532.xDOI Listing
April 2012

Neonatal muscular manifestations in mitochondrial disorders.

Semin Fetal Neonatal Med 2011 Aug 18;16(4):229-35. Epub 2011 May 18.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.siny.2011.04.001DOI Listing
August 2011

The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1.

Int J Pediatr Otorhinolaryngol 2010 Oct 16;74(10):1126-34. Epub 2010 Jul 16.

Division of Speech and Language Pathology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Mun-H-Center Orofacial Resource Centre for Rare Diseases, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.ijporl.2010.06.013DOI Listing
October 2010

Visual function in congenital and childhood myotonic dystrophy type 1.

Ophthalmology 2010 May 26;117(5):976-82. Epub 2010 Mar 26.

Department of Pediatrics, Northern Alvsborg County Hospital, Trollhättan, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420100012
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http://dx.doi.org/10.1016/j.ophtha.2010.01.055DOI Listing
May 2010

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.

Dev Med Child Neurol 2009 Dec 21;51(12):982-90. Epub 2009 Apr 21.

Department of Paediatrics, Northern Alvsborg County Hospital, Trollhättan, Sweden.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03300.xDOI Listing
December 2009

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Brain 2009 Aug 30;132(Pt 8):2170-9. Epub 2009 Jun 30.

Department of Clinical Chemistry, Sahlgrenska University Hospital, SE-41345 Göteborg, Sweden.

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http://dx.doi.org/10.1093/brain/awp152DOI Listing
August 2009

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.

Acta Paediatr 2009 May 20;98(5):865-72. Epub 2009 Jan 20.

Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1111/j.1651-2227.2008.01201.xDOI Listing
May 2009

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Neuromuscul Disord 2009 Feb 12;19(2):147-50. Epub 2009 Jan 12.

Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Stråket 16, SE-413 45 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2008.11.014DOI Listing
February 2009

Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.

Am J Med Genet B Neuropsychiatr Genet 2008 Sep;147B(6):918-26

Department of Pediatrics, Northern Alvsborg County Hospital, Trollhättan, Sweden.

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http://doi.wiley.com/10.1002/ajmg.b.30698
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http://dx.doi.org/10.1002/ajmg.b.30698DOI Listing
September 2008

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

Arch Neurol 2008 Aug;65(8):1083-90

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1001/archneur.65.8.1083DOI Listing
August 2008

Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy.

Neuromuscul Disord 2007 Dec 12;17(11-12):919-28. Epub 2007 Jul 12.

Department of Orthopaedics, Institute of Clinical Sciences, Sahlgrenska University Hospital/Ostra, Sahlgrenska Academy at Göteborg University, SE-416 85 Göteborg, Sweden.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660700188
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http://dx.doi.org/10.1016/j.nmd.2007.05.008DOI Listing
December 2007

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

N Engl J Med 2007 Oct;357(15):1507-14

Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1056/NEJMoa066691DOI Listing
October 2007

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.

J Physiol 2007 Jun 12;581(Pt 3):1283-92. Epub 2007 Apr 12.

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

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http://dx.doi.org/10.1113/jphysiol.2007.129759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2170843PMC
June 2007

Orofacial dysfunction in children and adolescents with myotonic dystrophy.

Dev Med Child Neurol 2007 Jan;49(1):18-22

Mun-H-Center Orofacial Resource Centre for Rare Disorders and Department of Speech Pathology, Institute of Neuroscience and Physiology, Sahlgrenska Academy at Göteborg, Göteborg, Sweden.

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http://dx.doi.org/10.1017/s0012162207000060.xDOI Listing
January 2007

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Neuromuscul Disord 2006 Dec 17;16(12):830-8. Epub 2006 Oct 17.

Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2006.08.011DOI Listing
December 2006

Muscle involvement and motor function in amyoplasia.

Am J Med Genet A 2006 Aug;140(16):1757-67

Department of Pediatrics, Institute for the Health of Women and Children, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.31387DOI Listing
August 2006

POLG1 mutations associated with progressive encephalopathy in childhood.

J Neuropathol Exp Neurol 2006 Aug;65(8):758-68

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1097/01.jnen.0000229987.17548.6eDOI Listing
August 2006

Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence.

Dev Med Child Neurol 2005 Jul;47(7):478-85

Department of Paediatrics, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, S-416 85 Göteborg, Sweden.

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http://dx.doi.org/10.1017/s0012162205000927DOI Listing
July 2005

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Neuromuscul Disord 2005 Jun;15(6):412-5

The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2005.03.010DOI Listing
June 2005

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

Neuromuscul Disord 2005 Apr 28;15(4):299-302. Epub 2005 Jan 28.

Department of Pathology, Sahlgrenska University Hospital, 413 45 Göteborg, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966040033
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http://dx.doi.org/10.1016/j.nmd.2004.11.004DOI Listing
April 2005

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Eur J Pediatr 2005 Feb 19;164(2):99-103. Epub 2004 Nov 19.

Department of Paediatrics, Sahlgrenska University Hospital/Ostra, 41685 Göteborg, Sweden.

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http://dx.doi.org/10.1007/s00431-004-1570-2DOI Listing
February 2005

Mitochondrial encephalomyopathies.

J Neuropathol Exp Neurol 2003 Mar;62(3):217-27

Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.

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http://dx.doi.org/10.1093/jnen/62.3.217DOI Listing
March 2003

Multiple congenital contractures: birth prevalence, etiology, and outcome.

J Pediatr 2002 Jan;140(1):61-7

Department of Pediatrics and Regional Child Rehabilitation, Göteborg University, Sweden.

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http://dx.doi.org/10.1067/mpd.2002.121148DOI Listing
January 2002