Juliane S. Müller

发表

Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases

R. Horvath, Juliane S. Müller, M. Giunta, 2015, Journal of neuromuscular diseases.

Isolation and characterization of Staufen-containing ribonucleoprotein particles from rat brain

M. Kiebler, P. Macchi, M. Mallardo, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

P. Chinnery, Hanns Lochmüller, R. Whittaker, 2018, Neurology.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

Hanns Lochmüller, K. Boycott, R. Horvath, 2018, Human molecular genetics.

Phenotypic convergence of Menkes and Wilson disease

P. Chinnery, Hanns Lochmüller, R. Horvath, 2016, Neurology: Genetics.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

P. Chinnery, H. Lochmüller, R. Horvath, 2021, Brain : a journal of neurology.

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

Hanns Lochmüller, N. Barišić, Juliane S. Müller, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

K. Bushby, Hanns Lochmüller, S. Laval, 2010, Human molecular genetics.

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

Hanns Lochmüller, V. Mihaylova, Juliane S. Müller, 2007, Expert Reviews in Molecular Medicine.

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

Hanns Lochmüller, M. Wagner, T. Polvikoski, 2013, Neuromuscular Disorders.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

E. Stålberg, Hanns Lochmüller, A. Barois, 2014, Brain : a journal of neurology.

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

K. Bushby, Hanns Lochmüller, S. Laval, 2011, Human molecular genetics.

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok −/− zebrafish

R. Horvath, Juliane S. Müller, B. Munro, 2018, Human Molecular Genetics.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

M. Lek, F. Alkuraya, C. Bönnemann, 2018, American journal of human genetics.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

Yaobo Xu, M. Schuelke, R. Horvath, 2016, Human molecular genetics.

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Hanns Lochmüller, Angela Abicht, Hanns Lochmüller, 2015, Human molecular genetics.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

K. Bushby, A. De Grassi, Jacqueline A Palace, 2016, Journal of neuromuscular diseases.

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

R. Horvath, Juliane S. Müller, C. Schneider, 2020, Life Science Alliance.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Hanns Lochmüller, R. Krahe, M. Shevell, 2007, Brain : a journal of neurology.

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Hanns Lochmüller, J. Cossins, D. Beeson, 2013, Human molecular genetics.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Peter Donnelly, Nicola Carboni, Hanns Lochmüller, 2013, Brain : a journal of neurology.

Congenital myasthenic syndromes due to mutations in ALG 2 and ALG 14

P. Donnelly, D. Bentley, Jacqueline A Palace, 2013 .

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

V. Mootha, S. Pearce, C. Powell, 2020, medRxiv.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

A. Blaschek, H. Lochmüller, A. Huebner, 2014, Neuromuscular Disorders.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

H. Lochmüller, J. Senderek, S. Laval, 2016, Brain : a journal of neurology.

Mitochondrial Translation Deficiencies

R. Horvath, Juliane S. Müller, V. Boczonadi, 2021, Mitochondrial Diseases.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

D. Birchall, M. Santibanez-Koref, P. Chinnery, 2014, Nature Communications.

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

E. Bertini, B. Weschke, A. D’Amico, 2008, Brain : a journal of neurology.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations

R. Horvath, Juliane S. Müller, 2021, Brain : a journal of neurology.

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

P. Yu-Wai-Man, R. Horvath, A. Gomez-Duran, 2017, Journal of neuromuscular diseases.

Congenital myasthenic syndromes: Achievements and limitations of phenotype‐guided gene‐after‐gene sequencing in diagnostic practice: A study of 680 patients

H. Lochmüller, A. Huebner, C. Gallenmüller, 2012, Human mutation.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Hanns Lochmüller, S. Krause, J. Cossins, 2006, Brain : a journal of neurology.

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)

Hanns Lochmüller, A. Dell, S. Haslam, 2015, Biomolecules.

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

H. Christen, Hanns Lochmüller, H. Topaloglu, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

H. Lochmüller, V. Rakocevic-Stojanovic, J. Colomer, 2012, Journal of Neurology.

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes

Hanns Lochmüller, R. Whittaker, G. McMacken, 2018, Human molecular genetics.

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish

H. Lochmüller, R. Horvath, S. Hettwer, 2019, Cells.

Hanns Lochmüller, H. Lochmüller, C. Ortez, 2016, Journal of Neurology.

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

K. Bushby, Hanns Lochmüller, S. Laval, 2010, Human molecular genetics.

REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES

G. Nürnberg, V. Mihaylova, V. Guergueltcheva, 2009, Neurology.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.