Lista de obras - G. Padberg - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

A unifying genetic model for facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2014

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

artículo científico publicado el 1 de septiembre de 1992

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2004

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 1993

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Investigation of a family following fulminant malignant hyperthermia.

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

artículo científico publicado en 2003

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

artículo científico publicado en 2005

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

artículo científico publicado en 2003

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

artículo científico publicado en 2002

Population-based incidence and prevalence of facioscapulohumeral dystrophy

artículo científico publicado en 2014

Radiologic evidence for absence of the facial nerve in Möbius syndrome

artículo científico publicado en 2005

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

The spectrum of Mobius syndrome: an electrophysiological study

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Lista de obras de G. Padberg

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

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

A unifying genetic model for facioscapulohumeral muscular dystrophy

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

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

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

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

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

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

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.

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

Investigation of a family following fulminant malignant hyperthermia.

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

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

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

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

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

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Radiologic evidence for absence of the facial nerve in Möbius syndrome

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

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

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

The spectrum of Mobius syndrome: an electrophysiological study

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

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