List of works by George W. Padberg

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

scientific article published on 03 May 2018

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

scientific article published on 11 July 2018

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

scientific article published on 13 October 2017

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

scientific article

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands

scientific article published on 16 December 2011

Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT.

scientific article published on 22 October 2014

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

scientific article (publication date: September 1992)

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York

scientific article

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

scientific article

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

scientific article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration

scientific article published on 14 January 2014

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

scientific article

Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial

scientific article

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study

scientific article published on 19 September 2018

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

scientific article (publication date: 1993)

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

scientific article

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

scientific article

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

scientific article (publication date: 23 November 2003)

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

scientific article published on 20 April 2005

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

scientific article

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

scientific article

Investigation of a family following fulminant malignant hyperthermia.

scientific article

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy

scientific article

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

scientific article

Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.

scientific article published in August 2005

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

scientific article published in November 2003

PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis

scientific article (publication date: November 2002)

Population-based incidence and prevalence of facioscapulohumeral dystrophy

scientific article (publication date: 16 September 2014)

Radiologic evidence for absence of the facial nerve in Möbius syndrome.

scientific article published in March 2005

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

scientific article

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients

scientific article

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

scientific article

The spectrum of Mobius syndrome: an electrophysiological study.

scientific article published on 13 April 2005

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

scientific article published on 05 October 2018

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

scientific article published on 09 February 2016

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