List of works - Hanns Lochmüller

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

Mutations in dynamin 2 cause dominant centronuclear myopathy

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

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

scientific article

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

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

scientific article published in March 2006

Dok-7 mutations underlie a neuromuscular junction synaptopathy

scientific article published on 17 August 2006

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

scientific article

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

scientific article

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy

scientific article published on 18 March 2007

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

scientific article

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

scientific article (publication date: October 2003)

Pathological consequences of VCP mutations on human striated muscle

scientific article published on 19 September 2006

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

scientific article

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

scientific article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

scientific article

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD).

scientific article

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

scientific article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

scientific article

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

scientific article

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

scientific article published on April 1999

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

scientific article

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

scientific article

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

scientific article

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

scientific article published on 17 April 2007

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

scientific article

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

International Charter of principles for sharing bio-specimens and data

scientific article

Mutation history of the roma/gypsies

scientific article

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

scientific article published on 12 August 2011

Limb–girdle muscular dystrophies

article published in 2008

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

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

scientific article published on 7 January 2008

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

scientific article published on 13 March 2009

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

scientific article

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

scientific article

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

scientific article published on 2 February 2005

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

article

The burden of Duchenne muscular dystrophy: an international, cross-sectional study

scientific article

List of works by Hanns Lochmüller

The Human Phenotype Ontology in 2017

Mutations in dynamin 2 cause dominant centronuclear myopathy

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

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

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

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

Dok-7 mutations underlie a neuromuscular junction synaptopathy

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

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

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

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

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

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

The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Pathological consequences of VCP mutations on human striated muscle

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

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD).

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

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

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Risk of developing a mitochondrial DNA deletion disorder

International Charter of principles for sharing bio-specimens and data

Mutation history of the roma/gypsies

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

Limb–girdle muscular dystrophies

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

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

The burden of Duchenne muscular dystrophy: an international, cross-sectional study

Fibronectin is a serum biomarker for Duchenne muscular dystrophy