Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

S. Hardy · SciRah

Researcher profile · Semantic Scholar

S. Hardy

Share profile

S. Hardy — researcher profile on SciRah

h-index: 20
Works: 38
Citations: 1,431

Most-cited papers

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
John P. Grady, S. Pickett, Y. Ng, C. Alston +10 more
2018EMBO Molecular Medicine269 citations Open access
Semantic Scholar
Role of mesenchymal stem cells in neurogenesis and nervous system repair.
Daniel J. Maltman, S. Hardy, S. Przyborski
2011Neurochemistry International148 citations
Semantic Scholar
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
M. Oláhová, S. Hardy, Julie Hall, J. W. Yarham +22 more
2015Brain : a journal of neurology107 citations Open access
Semantic Scholar
Mesenchymal stem cells as mediators of neural differentiation.
S. Hardy, Daniel J. Maltman, S. Przyborski
2008Current Stem Cell Research & Therapy105 citations
Semantic Scholar
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
U. Ahting, J. Mayr, A. Vanlander, S. Hardy +20 more
2015Frontiers in Genetics93 citations Open access
Semantic Scholar
Titin Founder Mutation is a Common cause of Myofibrillar Myopathy with Early Respiratory Failure
G. Pfeffer, R. Barresi, I. Wilson, S. Hardy +19 more
2013Journal of Neurology Neurosurgery & Psychiatry82 citations Open access
Semantic Scholar
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
L. Melchionda, T. Haack, S. Hardy, T. Abbink +25 more
2014American Journal of Human Genetics74 citations Open access
Semantic Scholar
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
K. Thompson, Nicole Mai, M. Oláhová, Filippo Scialó +21 more
2018EMBO Molecular Medicine70 citations Open access
Semantic Scholar
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults
Y. Ng, John P. Grady, N. Lax, J. Bourke +12 more
2015European Heart Journal62 citations Open access
Semantic Scholar
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
Yi Ng, N. Lax, P. Maddison, C. Alston +30 more
2018EBioMedicine61 citations Open access
Semantic Scholar
Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology
S. Johnson, S. Hardy, C. Roberts, D. Bourn +2 more
2014Cytopathology41 citations
Semantic Scholar
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
C. Alston, Caoimhe Howard, M. Oláhová, S. Hardy +17 more
2016Journal of Medical Genetics38 citations Open access
Semantic Scholar
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
M. Charif, A. Nasca, K. Thompson, S. Gerber +38 more
2018JAMA Neurology35 citations Open access
Semantic Scholar
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
M. Oláhová, K. Thompson, S. Hardy, I. Barbosa +14 more
2016Journal of Inherited Metabolic Disease34 citations Open access
Semantic Scholar
Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab
R. Gilbert, L. Stanley, D. Fowler, E. Angus +2 more
2013Clinical Kidney Journal29 citations Open access
Semantic Scholar
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
S. Brito, K. Thompson, J. Campistol, J. Colomer +13 more
2015Frontiers in Genetics26 citations Open access
Semantic Scholar
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
D. Lehmann, K. Schubert, P. Joshi, S. Hardy +7 more
2015European Journal of Human Genetics24 citations Open access
Semantic Scholar
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
S. Hardy, E. Blakely, A. Purvis, Mariana C. Rocha +12 more
2016Neurology: Genetics22 citations Open access
Semantic Scholar
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency
Y. Ng, K. Thompson, Daniela Loher, Sila Hopton +7 more
2020Frontiers in Genetics21 citations Open access
Semantic Scholar
Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B
R. Gilbert, D. Fowler, E. Angus, S. Hardy +2 more
2013Pediatric nephrology (Berlin, West)21 citations Open access
Semantic Scholar
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement
E. Perli, A. Pisano, R. I. C. Glasgow, Miriam Carbo +13 more
2019Scientific Reports19 citations Open access
Semantic Scholar
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
M. Bacalhau, Marta Simões, Mariana C. Rocha, S. Hardy +14 more
2017Neuromuscular Disorders13 citations Open access
Semantic Scholar
Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
L. Melchionda, T. Haack, S. Hardy, T. Abbink +25 more
201711 citations
Semantic Scholar
Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant
Jaidip Gill, S. Hardy, E. Blakely, Sila Hopton +5 more
2017British Journal of Ophthalmology8 citations Open access
Semantic Scholar
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
Yi Ng, S. Hardy, Venice Shrier, G. Quaghebeur +9 more
2016Neuromuscular Disorders6 citations Open access
Semantic Scholar
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant
O. Poole, A. Horga, S. Hardy, E. Bugiardini +7 more
2020Neurology: Genetics2 citations Open access
Semantic Scholar
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
D. Hellebrekers, E. Blakely, A. Hendrickx, S. Hardy +6 more
2019Neuromuscular Disorders2 citations Open access
Semantic Scholar
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
E. Sommerville, Rachel L. Jones, S. Hardy, E. Blakely +6 more
2017Neurology: Genetics2 citations Open access
Semantic Scholar
Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls
J. Reimann, D. Lehmann, S. Hardy, G. Falkous +5 more
2017Neurology: Genetics2 citations Open access
Semantic Scholar
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
S. Brito, K. Thompson, J. Campistol, J. Colomer +13 more
2015Frontiers in Genetics2 citations Open access
Semantic Scholar
P.15.7 A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure
G. Pfeffer, R. Barresi, Ian J. Wilson, S. Hardy +19 more
20132 citations
Semantic Scholar
Survival and causes of death in primary mitochondrial diseases
K. Schon, J. Aston, Peter Stilwell, K. Lavelle +15 more
2026Genome Medicine0 citations Open access
Semantic Scholar
Girao H, Wong LJC, Taylor RW, Grazina M. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A
M. Bacalhau, Marta Simões, Mariana C. Rocha, S. Hardy +14 more
20180 citations
Semantic Scholar
Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction
K. Thompson, N. Mai, Monika Oláhová, Filippo Scialó +20 more
20180 citations
Semantic Scholar
P39. Assigning pathogenicity to three novel mt-tRNA mutations associated with different mitochondrial disease presentations
D. Lehmann, K. Schubert, P. Joshi, K. Baty +6 more
20150 citations
Semantic Scholar
Expanding The Clinical And Genetic Spectrum Of MYH7 Related Skeletal Myopathies In The United Kingdom (P3.302)
K. Brennan, A. Sarkozy, C. Longman, M. Guglieri +9 more
2014Neurology0 citations
Semantic Scholar
Sythesis and Purification of Bis-Phosphoserine-Cyclohexyl Lipid Analogues Utilizing an H-Phosphonate Approach
S. Hardy
20140 citations
Semantic Scholar
Mesenchymal stem cells as trophic mediators of neural differentiation
S. Hardy
20100 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

R. Taylor×26
Invite
R. Taylor — researcher profile on SciRah
R. Mcfarland×10
Invite
R. Mcfarland — researcher profile on SciRah
E. Blakely×8
Invite
E. Blakely — researcher profile on SciRah
Lang-Ping He×7
Invite
Lang-Ping He — researcher profile on SciRah

×7

Invite

K. Thompson — researcher profile on SciRah

Invite

C. Alston — researcher profile on SciRah

Invite

H. Prokisch — researcher profile on SciRah

Invite

G. Falkous — researcher profile on SciRah

Invite

G. Gorman — researcher profile on SciRah

Invite

D. Turnbull — researcher profile on SciRah

Invite

T. Haack — researcher profile on SciRah

Invite

P. Bonnen — researcher profile on SciRah