Peer Reviewed Journal Articles:
A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice
Stavrou M, Kagiava A, Choudury S, Jennings MJ, Wallace LM, Fowler AM,… Kleopa KA Journal of Clinical Investigation. 2022 Jul 1; 132(13):e159814
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth Disease in patients and mouse models
Jennings MJ, Kagiava A, Vendredy L, Spaulding E, Stavrou M, De Winter V,… Horvath R. Brain. 2022 Nov 21;145(11):3999-4015.
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3
Jennings MJ, Hathazi D, Nguyen CDL, Munro B, Münchberg U, Ahrends R, … Roos A. Frontiers in Cell and Developmental Biology. 2021 Oct 6; 9:710247.
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, … Jennings MJ, … Burgess RW. Science. 2021 Sep 3; 373(6559):1156-116.
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome’
Tiet MY, Lin Z, Gao F, Jennings MJ, Horvath R. Journal of Neuromuscular Diseases. 2021;8(6):885-897.
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy
Kagiava A, Karaiskos C, Richter J, Tryfonos C, Jennings MJ, Heslegrave AJ, … Kleopa KA. Gene Therapy. 2021 Nov;28(10-11):659-675.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Hathazi D*, Griffin H*, Jennings MJ*, Giunta M*, … Müller JS*, Horvath R*. EMBO Journal. 2020 Dec 1;39(23):e105364.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Manole A*, Efthymiou S*, O'Connor E*, Mendes MI*, Jennings MJ*, … Becker H*, Mandel JL*, Koolen DA*, Houlden H*. American Journal of Human Genetics. 2020 Aug 6; 107(2): 311–324.
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps towards a 'treatabolome'
Jennings MJ, Lochmüller A, Atalaia A, Horvath R
J Neuromuscular Diseases. 2021;8(3):383-400. Online ahead of print
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia A, Thompson R, Corvo A, Carmody L, … Jennings MJ, … Bonne G
Orphanet Journal of Rare Diseases. 2020 Aug 12;15(1):206.
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients
Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U. Frontiers in Neurology. 2019 May 7;10:470.
The role of tRNA synthetases in neurological and neuromuscular disorders
Boczonadi V, Jennings MJ, Horvath R. FEBS Letters. 2018 March;591(5):703-717
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
Bansagi B*, Phan V*, Baker MR*, O'Sullivan J, Jennings MJ, … Roos A*, Swan L*, Horvath R*. Neurology. 2018 May 22;90(21):e1842-e1848.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, … Timmerman V. Journal of Neurology, Neurosurgery, and Psychiatry. 2018 Aug;89(8):870-878.
Selected Conference Presentations:
CMTRF Global CMT Research Conference – September 2022 (Cambridge, MA)
Invited Speaker: NCAM1 and GDF15 as biomarkers in CMT
Peripheral Nerve Society Annual Meeting - June 2022 (Miami, FL)
Short Oral Presentation: NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
UK Neuromuscular Translational Research Conference 2021 – 27-28th March (Virtual)
Flash presentation: Combining the power of patients and mouse models to identify biomarkers in CMT
*Prize: Best flash presentation*
Peripheral Nerve Society Annual Meeting 2020 – 27-30th June (Virtual)
Poster: Combining the power of patients and mouse models to identify biomarkers in CMT
Peripheral Nerve Society Annual Meeting 2019 – 22nd-26th June (Genoa)
Poster: Application of unbiased molecular datasets and machine learning for discovery of novel dHMN-associated genes
UK Neuromuscular Translational Research Conference 2019 – 27-28th March (Newcastle upon Tyne, UK)
Flash presentation: Machine learning using experimental datasets for discovery of novel dHMN-associated genes
7th Molecular Mechanisms of Axon Degeneration (Loch Lomond, UK)
Poster: Application of unbiased molecular datasets and machine learning for discovery of novel dHMN-associated genes
Peripheral Nerve Society Annual Meeting 2018 – 22nd-26th June (Baltimore, MD)
Platform presentation: CMT serum alterations: biomarkers and disease insight