Peter G. Barth

Best Publications

• An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

  P.G. Barth;H.R. Scholte;J.A. Berden;J.M. Van Der Klei-Van Moorsel

  893
  Citations

• A new leukoencephalopathy with vanishing white matter.

  M. S. van der Knaap;P. G. Barth;F.J.M. Gabreëls;E. Franzoni

  498
  Citations

• POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

  J. van Reeuwijk;M. Janssen;C. van der Elzen;D. Beltran Valero de Bernabe

  466
  Citations

• Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.

  M. S. van der Knaap;P. G. Barth;H. Stroink;O. van Nieuwenhuizen

  404
  Citations

• X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

  Peter G. Barth;Fredoen Valianpour;Valerie M. Bowen;Jan Lam

  318
  Citations

• The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

  Patrizia D'Adamo;Lucia Fassone;Agi Gedeon;Emiel A.M. Janssen

  300
  Citations

• Pontocerebellar hypoplasias : an overview of a group of inherited neurodegenerative disorders with fetal onset

  Peter G. Barth

  290
  Citations

• tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

  Birgit S. Budde;Yasmin Namavar;Peter G. Barth;Bwee Tien Poll-The

  265
  Citations

• Phenotypic variation in leukoencephalopathy with vanishing white matter

  M. S. van der Knaap;W. Kamphorst;P. G. Barth;C. L. Kraaijeveld

  265
  Citations

• Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

  Yasmin Namavar;Peter G. Barth;Paul R. Kasher;Fred van Ruissen

  245
  Citations

• X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

  P. G. Barth;R. J. A. Wanders;P. Vreken;E. A. M. Janssen

  243
  Citations

• The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection

  L. S. De Vries;Hartono Gunardi;P. G. Barth;L. A. Bok

  220
  Citations

• Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

  Yasmin Namavar;Peter G Barth;Bwee Tien Poll-The;Frank Baas

  211
  Citations

• Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

  R. H. Triepels;L. P. Van Den Heuvel;J. L. C. M. Loeffen;C. A. F. Buskens

  205
  Citations

• Normal gyration and sulcation in preterm and term neonates: appearance on MR images.

  M S van der Knaap;G van Wezel-Meijler;P G Barth;F Barkhof

  202
  Citations

• Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

  P A Bolhuis;G W Hensels;T J Hulsebos;F Baas

  201
  Citations

• Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

  M. S. van der Knaap;L. M. E. Smit;P. G. Barth;C. E. Catsman-Berrevoets

  198
  Citations

• Clinical and biochemical spectrum of D-bifunctional protein deficiency.

  Sacha Ferdinandusse;Simone Denis;Petra A. W. Mooyer;Conny Dekker

  197
  Citations

• X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

  B.M. van Geel;J. Assies;R.J.A. Wanders;P.G. Barth

  193
  Citations

• Aicardi-Goutières syndrome : An update and results of interferon-α studies

  Françoise GoutièRes;Jean Aicardi;Peter G. Barth;Pierre Lebon

  191
  Citations