Bjarne Udd

Overview

Best Publications

• The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

  Stephan Lange;Fengqing Xiang;Andrey Yakovenko;Anna Vihola

  671
  Citations

• Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

  Peter Hackman;Anna Vihola;Henna Haravuori;Sylvie Marchand

  596
  Citations

• The myotonic dystrophies: molecular, clinical, and therapeutic challenges

  Bjarne Udd;Ralf Krahe

  531
  Citations

• Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

  R Horvath;G Hudson;G Ferrari;N Futterer

  447
  Citations

• Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

  Anna H. Hakonen;Silja Heiskanen;Vesa Juvonen;Ilse Lappalainen

  355
  Citations

• EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseases.

  I. Elovaara;S. Apostolski;P. Van Doorn;N. E. Gilhus

  354
  Citations

• Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

  P M Andersen;L Forsgren;M Binzer;P Nilsson

  349
  Citations

• Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

  Charlotte Fugier;Arnaud F Klein;Caroline Hammer;Stéphane Vassilopoulos

  341
  Citations

• 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

  Volker Straub;Alexander Murphy;Bjarne Udd;Angelini Corrado

  329
  Citations

• Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

  Kinji Ohno;Akira Tsujino;Joan M. Brengman;C. Michel Harper

  309
  Citations

• POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

  G Van Goethem;P Luoma;M Rantamaki;A Al Memar

  285
  Citations

• Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

  Jaakko Sarparanta;Per Harald Jonson;Christelle Golzio;Satu Sandell

  282
  Citations

• The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

  Anna-Kaisa Anttonen;Ibrahim Mahjneh;Riikka H Hämäläinen;Clotilde Lagier-Tourenne

  262
  Citations

• Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

  Marlinde L. van den Boogaard;Richard J. L. F. Lemmers;Judit Balog;Marielle Wohlgemuth

  251
  Citations

• Distinct muscle imaging patterns in myofibrillar myopathies

  D. Fischer;R. A. Kley;K. Strach;C. Meyer

  227
  Citations

• Secondary calpain3 deficiency in 2q-linked muscular dystrophy Titin is the candidate gene

  H. Haravuori;A. Vihola;V. Straub;M. Auranen

  217
  Citations

• Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.

  A. Vihola;G. Bassez;G. Meola;S. Zhang

  209
  Citations

• Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

  Atsushi Fukuzawa;Stephan Lange;Mark Holt;Anna Vihola

  197
  Citations

• Confirmation of the Type 2 Myotonic Dystrophy (CCTG)n Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

  Linda L. Bachinski;Bjarne Udd;Giovanni Meola;Valeria Sansone

  187
  Citations

• Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

  Salvatore Dimauro;Guido Davidzon;Michio Hirano;Rita Horvath

  0
  Citations