Carina Wallgren-Pettersson

Overview

Best Publications

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

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

  Kristen J. Nowak;Kristen J. Nowak;Duangrurdee Wattanasirichaigoon;Hans H. Goebel;Matthew Wilce

  453
  Citations

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

  Anne-Sophie Nicot;Anne Toussaint;Valérie Tosch;Christine Kretz

  421
  Citations

• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

  Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry

  358
  Citations

• Centronuclear (myotubular) myopathy

  Heinz Jungbluth;Heinz Jungbluth;Carina Wallgren-Pettersson;Jocelyn Laporte

  331
  Citations

• Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

  Kati Donner;Miina Ollikainen;Maaret Ridanpää;Hans-Jürgen Christen

  317
  Citations

• Approach to the diagnosis of congenital myopathies

  Kathryn N. North;Kathryn N. North;Ching H. Wang;Nigel Clarke;Heinz Jungbluth;Heinz Jungbluth

  293
  Citations

• Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

  Pankaj B. Agrawal;Rebecca S. Greenleaf;Kinga K. Tomczak;Vilma-Lotta Lehtokari

  268
  Citations

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

  Nigel G Laing;Danielle E Dye;Carina Wallgren-Pettersson;Gabriele Richard

  258
  Citations

• MTM1 mutations in X-linked myotubular myopathy

  Jocelyn Laporte;Valérie Biancalana;Stephan M. Tanner;Wolfram Kress

  243
  Citations

• Nemaline myopathy: Current concepts

  K.N. North;Nigel Laing;C. Wallgren-Pettersson

  232
  Citations

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

  John C. Sparrow;Kristen J. Nowak;Kristen J. Nowak;Hayley J. Durling;Alan H. Beggs

  225
  Citations

• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

  Gianina Ravenscroft;Satoko Miyatake;Vilma Lotta Lehtokari;Emily J. Todd

  218
  Citations

• Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

  Michaela Yuen;Sarah A. Sandaradura;James J. Dowling;James J. Dowling;Alla S. Kostyukova

  201
  Citations

• 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

  Carina Wallgren-Pettersson;Kate Bushby;Uwe Mellies;Anita Simonds

  193
  Citations

• Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

  Vandana A. Gupta;Gianina Ravenscroft;Ranad Shaheen;Emily J. Todd

  176
  Citations

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

  Carina Wallgren-Pettersson;Vilma-Lotta Lehtokari;Hannu Kalimo;Anders Paetau

  174
  Citations

• Nemaline myopathies: a current view

  Caroline A. Sewry;Jenni M. Laitila;Carina Wallgren-Pettersson

  172
  Citations

• Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive Nemaline myopathy

  Vilma Lotta Lehtokari;Katarina Pelin;Maria Sandbacka;Salla Ranta

  169
  Citations

• The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

  C. Wallgren-Pettersson;Angus John Clarke;F. Samson;M. Fardeau

  168
  Citations