Hanns Lochmüller

Overview

Best Publications

• The Human Phenotype Ontology in 2017

  Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  826
  Citations

• Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

  Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  715
  Citations

• The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

  Catherine L. Bladen;David Salgado;Soledad Monges;Maria E. Foncuberta

  678
  Citations

• Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

  Ingrid E. C. Verhaart;Agata Robertson;Ian J. Wilson;Annemieke Aartsma-Rus

  586
  Citations

• Mutations in dynamin 2 cause dominant centronuclear myopathy.

  Marc Bitoun;Svetlana Maugenre;Pierre-Yves Jeannet;Emmanuelle Lacène

  485
  Citations

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

  R Horvath;G Hudson;G Ferrari;N Futterer

  447
  Citations

• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

  Kym M. Boycott;Ana Rath;Jessica X. Chong;Taila Hartley

  441
  Citations

• The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants.

  Johnny Huard;H. Lochmüller;G. Acsadi;A. Jani

  425
  Citations

• Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

  B. Wirth;L. Brichta;B. Schrank;H. Lochmüller

  387
  Citations

• The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

  Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat

  358
  Citations

• Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

  Woranontee Weraarpachai;Hana Antonicka;Florin Sasarman;Florin Sasarman;Jürgen Seeger

  334
  Citations

• A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

  Matthias Vorgerd;Peter F.M. van der Ven;Peter F.M. van der Ven;Vera Bruchertseifer;Thomas Löwe

  326
  Citations

• Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

  Wolfgang Müller-Felber;Rita Horvath;Klaus Gempel;Teodor Podskarbi

  302
  Citations

• Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

  Michaela Auer-Grumbach;Andrea Olschewski;Lea Papić;Hannie Kremer

  300
  Citations

• Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

  David Beeson;Osamu Higuchi;Jackie Palace;Judy Cossins

  299
  Citations

• SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

  Daniele Ghezzi;Paola Goffrini;Graziella Uziel;Rita Horvath;Rita Horvath

  293
  Citations

• Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

  J. Senderek;M. Krieger;C. Stendel;C. Bergmann

  291
  Citations

• Emergence of Early Region 1-Containing Replication-Competent Adenovirus in Stocks of Replication-Defective Adenovirus Recombinants (ΔE1 + ΔE3) During Multiple Passages in 293 Cells

  H. Lochmuller;A. Jani;Johnny Huard;S. Prescott

  282
  Citations

• Risk of developing a mitochondrial DNA deletion disorder

  Patrick F Chinnery;Salvatore DiMauro;Sara Shanske;Eric A Schon

  282
  Citations

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

  Salvatore Dimauro;Guido Davidzon;Michio Hirano;Rita Horvath

  0
  Citations