Publications by authors named "Langping He"

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Langping He, Christopher Carroll, Henry Houlden

Am J Hum Genet· April 2025

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Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.
Taylor Watson-Fargie, Autumn Coomber, Rachel Edwards, Marianne Barr, Kathryn Brennan, Elaine Fletcher, Langping He, Cheryl Longman

Neuromuscul Disord· April 2025

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COA5 has an essential role in the early stage of mitochondrial complex IV assembly.
Jia Xin Tang, Alfredo Cabrera-Orefice, Jana Meisterknecht, Lucie S Taylor, Geoffray Monteuuis, Langping He, Christopher B Jackson

Life Sci Alliance· March 2025

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Bio-inspired deep neural local acuity and focus learning for visual image recognition.
Langping He, Bing Wei, Kuangrong Hao, Lei Gao, Chuang Peng

Neural Netw· January 2025

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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Shelagh Joss, Amel Ben Chehida, Langping He, Henry Houlden

Am J Hum Genet· January 2025

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Biallelic variants in cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Langping He

medRxiv· October 2024

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Biallelic variants in result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Shelagh Joss, Amel Ben Chehida, Langping He, Henry Houlden

medRxiv· August 2024

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Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Wenqian Chen, Preeya Rehsi, Kyle Thompson, Mildrid Yeo, Karen Stals, Langping He

Mol Genet Metab· November 2023

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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Thomas B Smith, Alessandro Rea, Huw B Thomas, Kyle Thompson, Monika Oláhová, Langping He, Kristin C Herman, Henry Houlden

Eur J Hum Genet· October 2023

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Alejandro Horga, Andreea Manole, Alice L Mitchell, Enrico Bugiardini, Iain P Hargreaves, Langping He, Catherine E Woodward, Henry Houlden

Mol Biol Rep· March 2021

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Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Langping He, Daniele Ghezzi

EMBO Mol Med· November 2020

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Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Lien Van Eyck, Francesco Bruni, Anne Ronan, Tracy A Briggs, Tony Roscioli, Langping He

Neuropediatrics· June 2020

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Metabolic effects of bezafibrate in mitochondrial disease.
Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Langping He

EMBO Mol Med· March 2020

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Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, Francesco Bruni, Kyle Thompson, Langping He, Lizbeth Hedstrom

Clin Genet· February 2020

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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Charlotte L Alston, Mike T Veling, Juliana Heidler, Lucie S Taylor, Joseph T Alaimo, Langping He

Am J Hum Genet· January 2020

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Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Langping He

Hum Mol Genet· November 2019

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A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.
Albert Z Lim, Emma L Blakely, Karen Baty, Langping He, Sila Hopton

Mitochondrion· July 2019

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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Elena Perli, Annalinda Pisano, Ruth I C Glasgow, Miriam Carbo, Steven A Hardy, Langping He

Sci Rep· March 2019

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Leigh syndrome caused by mutations in is associated with a better prognosis.
Hannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Langping He

Ann Clin Transl Neurol· March 2019

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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, Janda Jenkins, Liliya Euro, Langping He, Henna Tyynismaa

Hum Mol Genet· January 2019

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A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.
Thomas Agnew, Michelle Goldsworthy, Carlos Aguilar, Anna Morgan, Michelle Simon, Helen Hilton, Heather Cater, Cheryl Scudamore, Langping He

Cell Rep· December 2018

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mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, Langping He

EMBO Mol Med· November 2018

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Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Langping He, Paulina Bahena

BMC Med Genet· November 2018

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Expanding the phenotype of de novo -linked mitochondrial disease to include mild myopathy.
Martin S King, Kyle Thompson, Sila Hopton, Langping He, Edmund R S Kunji

Neurol Genet· August 2018

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).
Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker

Neurol Genet· August 2018

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