Full Text Journal Articles by
Author Yi Shiau Ng

Advertisement

Find full text journal articles






Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses

Renae Stefanetti, Alasdair Blain, Cecilia Jimenez-Moreno, Linda Errington, Yi Shiau Ng, Robert McFarland, Doug Turnbull, Jane Newman, Gráinne Gorman,

Background: The benefit and safety of exercise training for patients with neuromuscular disorders (NMDs) has long been a contentious topic. This is, in part, due to recognised challenges associated with rare diseases including small and heterogenous patient populations. We performed a systematic review and meta-analyses to evaluate the effectiveness and ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.

Maaike C De Vries, David A Brown, Mitchell E Allen, Laurence Bindoff, Gráinne S Gorman, Amel Karaa, Nandaki Keshavan, Costanza Lamperti, Robert McFarland, Yi Shiau Ng, Mar O'Callaghan, Robert D S Pitceathly, Shamima Rahman, Frans G M Russel, Kristin N Varhaug, Tom J J Schirris, Michelangelo Mancuso,

Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a situation of clinical need. The aim of this study was to develop consensus on safe medication ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.

Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A Hardy, Andrew M Schaefer, Sandip Shaunak, Mark E Roberts, James B Lilleker, Robert W Taylor,

Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial complex I deficiency in skeletal muscle biopsies. The first ... Read more >>

Front Genet (Frontiers in genetics)
[2020, 11:24]

Cited: 0 times

View full text PDF listing >>



Consensus-based statements for the management of mitochondrial stroke-like episodes.

Yi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D S Pitceathly, Andrew M Schaefer, Doug M Turnbull,

Background: Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute treatment of stroke-like episodes remains controversial. Methods: We used the modified Delphi process to harness the clinical ... Read more >>

Wellcome Open Res (Wellcome open research)
[2019, 4:201]

Cited: 0 times

View full text PDF listing >>



Consensus-based statements for the management of mitochondrial stroke-like episodes

Yi Shiau Ng, Laurence Bindoff, Gráinne Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert Pitceathly, Andrew Schaefer, Doug Turnbull,

<ns5:p><ns5:bold>Background: </ns5:bold>Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute treatment of stroke-like episodes remains controversial.</ns5:p><ns5:p> <ns5:bold>Methods: </ns5:bold>We used the modified Delphi process to harness the clinical ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Charlotte M Zierz, Karen Baty, Emma L Blakely, Sila Hopton, Gavin Falkous, Andrew M Schaefer, Marios Hadjivassiliou, Ptolemaios G Sarrigiannis, Yi Shiau Ng, Robert W Taylor,

Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropathy. No family history of neurological disorder was reported. ... Read more >>

J Clin Med (Journal of clinical medicine)
[2019, 8(6):]

Cited: 0 times

View full text PDF listing >>



Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

Rachel L Boal, Yi Shiau Ng, Sarah J Pickett, Andrew M Schaefer, Catherine Feeney, Alexandra Bright, Robert W Taylor, Doug M Turnbull, Grainne S Gorman, Tim Cheetham, Robert McFarland,

CONTEXT:Abnormal growth and short stature are observed in patients with mitochondrial disease, but it is unclear whether there is a relationship between final adult height and disease severity. OBJECTIVE:To determine whether patients with genetically confirmed mitochondrial disease are shorter than their peers and whether stature is related to disease severity. ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2019, 104(6):2057-2066]

Cited: 0 times

View full text PDF listing >>



Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Yi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, Alasdair Blain, Enrico Bugiardini, Apphia Bunting, Andrew M Schaefer, Charlotte L Alston, Emma L Blakely, Sunil Sharma, Imelda Hughes, Albert Lim, Christian de Goede, Meriel McEntagart, Stefan Spinty, Iain Horrocks, Mark Roberts, Cathy E Woodward, Patrick F Chinnery, Rita Horvath, Victoria Nesbitt, Carl Fratter, Joanna Poulton, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Doug M Turnbull, Robert McFarland,

Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic ... Read more >>

Ann. Neurol. (Annals of neurology)
[2019, 86(2):310-315]

Cited: 0 times

View full text PDF listing >>



Mitochondrial Donation - Which Women Could Benefit?

Sarah J Pickett, Alasdair Blain, Yi Shiau Ng, Ian J Wilson, Robert W Taylor, Robert McFarland, Doug M Turnbull, Gráinne S Gorman,

N. Engl. J. Med. (The New England journal of medicine)
[2019, 380(20):1971-1972]

Cited: 0 times

View full text PDF listing >>



Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elzbieta Ciara, Nicole J Lake, Alison G Compton, Martin B Delatycki, Aad Verrips, Penelope E Bonnen, Simon A Jones, Andrew A Morris, David Shakespeare, John Christodoulou, Dorota Wesol-Kucharska, Dariusz Rokicki, Hubert J M Smeets, Ewa Pronicka, David R Thorburn, Grainne S Gorman, Robert McFarland, Robert W Taylor, Yi Shiau Ng,

Objectives:Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2019, 6(3):515-524]

Cited: 1 time

View full text PDF listing >>



Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Amy E Vincent, Kathryn White, Tracey Davey, Jonathan Philips, R Todd Ogden, Conor Lawless, Charlotte Warren, Matt G Hall, Yi Shiau Ng, Gavin Falkous, Thomas Holden, David Deehan, Robert W Taylor, Doug M Turnbull, Martin Picard,

Cell Rep (Cell reports)
[2019, 27(1):321]

Cited: 1 time

View full text PDF listing >>



Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Amy E Vincent, Kathryn White, Tracey Davey, Jonathan Philips, R Todd Ogden, Conor Lawless, Charlotte Warren, Matt G Hall, Yi Shiau Ng, Gavin Falkous, Thomas Holden, David Deehan, Robert W Taylor, Doug M Turnbull, Martin Picard,

Genetic and biochemical defects of mitochondrial function are a major cause of human disease, but their link to mitochondrial morphology in situ has not been defined. Here, we develop a quantitative three-dimensional approach to map mitochondrial network organization in human muscle at electron microscopy resolution. We establish morphological differences between ... Read more >>

Cell Rep (Cell reports)
[2019, 26(4):996-1009.e4]

Cited: 1 time

View full text PDF listing >>



mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard Jq McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland,

Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N = 231, urine N = 235, skeletal muscle N = 77) represents the m.3243A>G mutation load and mitochondrial DNA (mtDNA) copy number most strongly associated ... Read more >>

EMBO Mol Med (EMBO molecular medicine)
[2018, 10(6):]

Cited: 10 times

View full text PDF listing >>



MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan G J Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert D S Pitceathly, Robert McFarland, Gráinne S Gorman,

Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years ... Read more >>

EBioMedicine (EBioMedicine)
[2018, 30:86-93]

Cited: 5 times

View full text PDF listing >>



Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Sarah J Pickett, John P Grady, Yi Shiau Ng, Gráinne S Gorman, Andrew M Schaefer, Ian J Wilson, Heather J Cordell, Doug M Turnbull, Robert W Taylor, Robert McFarland,

Objective:The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity. Methods:We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers) from the UK MRC Mitochondrial ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2018, 5(3):333-345]

Cited: 5 times

View full text PDF listing >>



The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

Yi Shiau Ng, Henriette van Ruiten, H Ming Lai, Rebecca Scott, Venkateswaran Ramesh, Karen Horridge, Robert W Taylor, Doug M Turnbull, Gráinne S Gorman, Robert McFarland, Mark R Baker,

Focal status epilepticus in POLG-related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epilepsia partialis continua and metabolic stroke resulting from the homozygous p.Ala467Thr POLG mutation, the most common pathogenic variant identified ... Read more >>

Epilepsia Open (Epilepsia open)
[2018, 3(1):103-108]

Cited: 1 time

View full text PDF listing >>



Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Mariana C Rocha, Hannah S Rosa, John P Grady, Emma L Blakely, Langping He, Nadine Romain, Ronald G Haller, Jane Newman, Robert McFarland, Yi Shiau Ng, Grainne S Gorman, Andrew M Schaefer, Helen A Tuppen, Robert W Taylor, Doug M Turnbull,

OBJECTIVE:Single, large-scale deletions in mitochondrial DNA (mtDNA) are a common cause of mitochondrial disease. This study aimed to investigate the relationship between the genetic defect and molecular phenotype to improve understanding of pathogenic mechanisms associated with single, large-scale mtDNA deletions in skeletal muscle. METHODS:We investigated 23 muscle biopsies taken from ... Read more >>

Ann. Neurol. (Annals of neurology)
[2018, 83(1):115-130]

Cited: 4 times

View full text PDF listing >>



Decreased male reproductive success in association with mitochondrial dysfunction.

Mika H Martikainen, John P Grady, Yi Shiau Ng, Charlotte L Alston, Grainne S Gorman, Robert W Taylor, Robert McFarland, Doug M Turnbull,

The reproductive success of men with mitochondrial disease is to date unreported. We compared the age- and era-adjusted reproductive success of 94 British male patients with mitochondrial disease to that of the UK general male population. The reproductive success of men with mitochondrial disease was 65% of that in the ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2017, 25(10):1162-1164]

Cited: 5 times

View full text PDF listing >>



Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia.

Yi Shiau Ng, Helen Powell, Nigel Hoggard, Doug M Turnbull, Robert W Taylor, Marios Hadjivassiliou,

Neurol Genet (Neurology. Genetics)
[2017, 3(5):e181]

Cited: 0 times

View full text PDF listing >>



Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Ewen W Sommerville, Yi Shiau Ng, Charlotte L Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L Chin, Andrew M Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A Bindoff, John M Rawles, John C S Dean, Richard K Petty, Maria E Farrugia, Tobias B Haack, Holger Prokisch, Robert McFarland, Douglass M Turnbull, Claudia Donnini, Robert W Taylor, Gráinne S Gorman,

Importance:YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives:To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to ... Read more >>

JAMA Neurol (JAMA neurology)
[2017, 74(6):686-694]

Cited: 11 times

View full text PDF listing >>



Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.

Yi Shiau Ng, Ming Lim, Gareth Thomas, Robert McFarland,

Neurology (Neurology)
[2016, 87(14):e159-e160]

Cited: 0 times

View full text PDF listing >>



The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Eszter Dombi, Alan Diot, Karl Morten, Janet Carver, Tiffany Lodge, Carl Fratter, Yi Shiau Ng, Chunyan Liao, Rebecca Muir, Emma L Blakely, Iain Hargreaves, Mazhor Al-Dosary, Gopa Sarkar, Simon J Hickman, Susan M Downes, Sandeep Jayawant, Patrick Yu-Wai-Man, Robert W Taylor, Joanna Poulton,

Neurology (Neurology)
[2016, 86(20):1921-1923]

Cited: 12 times

View full text PDF listing >>



Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

Yi Shiau Ng, Catherine Feeney, Andrew M Schaefer, Carol Ellen Holmes, Paula Hynd, Charlotte L Alston, John P Grady, Mark Roberts, Mellisa Maguire, Alexandra Bright, Robert W Taylor, Yan Yiannakou, Robert McFarland, Doug M Turnbull, Gráinne S Gorman,

OBJECTIVES:The m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo-obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G-related mitochondrial disease manifesting with IPO. METHODS:In this large, observational cohort study, we ... Read more >>

Ann. Neurol. (Annals of neurology)
[2016, 80(5):686-692]

Cited: 5 times

View full text PDF listing >>



RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, , Robert McFarland, Adeline Vanderver,

Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2017, 66:59-62]

Cited: 3 times

View full text PDF listing >>



Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Steven A Hardy, Emma L Blakely, Andrew I Purvis, Mariana C Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F Dougan, Yi Shiau Ng, Rita Horvath, Doug M Turnbull, Grainne S Gorman, Robert W Taylor,

Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common mt-tRNA mutations, such as the m.3243A>G mutation, exist, the majority are rare and have been reported in only a small number of ... Read more >>

Neurol Genet (Neurology. Genetics)
[2016, 2(4):e82]

Cited: 2 times

View full text PDF listing >>



Advertisement

Disclaimer
1.2067 s