Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

(2020) Dominic Lenz et al.   GENETICS IN MEDICINE

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

(2019) Moritz Hebebrand et al.   Orphanet Journal of Rare Diseases

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease

(2018) Jonathan Rips et al.   European Journal of Medical Genetics

Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity

(2018) Martine Comisso et al.   FEBS Journal

Aminoacyl-tRNA synthetase deficiencies in search of common themes

(2018) Sabine A. Fuchs et al.   GENETICS IN MEDICINE

Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective

(2017) Matthias Griese   PEDIATRICS

International management platform for children’s interstitial lung disease (chILD-EU)

(2017) Matthias Griese et al.   THORAX

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

(2016) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

(2015) Alice Hadchouel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

(2015) Jillian P. Casey et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?

(2014) Laurent Enaud et al.   Orphanet Journal of Rare Diseases

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

(2013) Michael Gonzalez et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Long-term follow-up and treatment of congenital alveolar proteinosis

(2011) Matthias Griese et al.   BMC Pediatrics

Role for a Conserved Structural Motif in Assembly of a Class I Aminoacyl-tRNA Synthetase Active Site

(2010) Veronica C. Casina et al.   BIOCHEMISTRY

Whole-lung lavage in infants and children with pulmonary alveolar proteinosis

(2010) KARL REITER et al.   PEDIATRIC ANESTHESIA