Robert McFarland
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Explore the profile of Robert McFarland including associated specialties, affiliations and a list of published articles.
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203
Citations
6471
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Recent Articles
1.
Schoonen M, Fassad M, Patel K, Bisschoff M, Vorster A, Makwikwi T, et al.
Eur J Hum Genet
. 2025 Feb;
PMID: 39966651
King-Denborough Syndrome (KDS) is a congenital myopathy (CM) characterised by myopathy, dysmorphic features and susceptibility to malignant hyperthermia. The objective of this study was to investigate the genotype-phenotype correlation in...
2.
Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, et al.
Brain Commun
. 2025 Feb;
7(1):fcae453.
PMID: 39963288
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three...
3.
Ivaniuk A, Anselm I, Bowen A, Cohen B, Eminoglu F, Estrella J, et al.
Neurology
. 2025 Jan;
104(4):e209779.
PMID: 39883904
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders....
4.
Aughey G, Cali E, Maroofian R, Zaki M, Pagnamenta A, Ali Z, et al.
Brain
. 2024 Dec;
PMID: 39692517
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However,...
5.
Pizzamiglio C, Stefanetti R, McFarland R, Thomas N, Ransley G, Hugerth M, et al.
Brain
. 2024 Dec;
148(1):39-46.
PMID: 39657714
Over the past two decades there has been increased interest in orphan drug development for rare diseases. However, hurdles to clinical trial design for these disorders remain. This phase 1a/1b...
6.
Frezatti R, Tomaselli P, Record C, Wilson L, Alves G, Dominik N, et al.
Brain Commun
. 2024 Nov;
6(6):fcae342.
PMID: 39544699
Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite...
7.
Bangel K, Lim A, Blain A, Ng Y, Winder A, Bulmer J, et al.
BMC Neurol
. 2024 Oct;
24(1):407.
PMID: 39438822
Background: Focal epilepsy is common in children and adults with mitochondrial disease. Seizures are often refractory to pharmacological treatment and, in this patient group, frequently evolve to refractory focal status...
8.
Hassaan H, Pyle A, Almenabawy N, Robertson F, Elkhateeb N, Girgis M, et al.
Am J Med Genet A
. 2024 Oct;
197(2):e63881.
PMID: 39400921
Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial...
9.
Correia S, Moedas M, Taylor L, Naess K, Lim A, McFarland R, et al.
JCI Insight
. 2024 Sep;
9(20).
PMID: 39288270
BACKGROUNDMitochondrial diseases belong to the group of inborn errors of metabolism (IEM), with a prevalence of 1 in 2,000-5,000 individuals. They are the most common form of IEM, but, despite...
10.
Houghton D, Ng Y, Jackson M, Stefanetti R, Hynd P, Mac Aogain M, et al.
Gastro Hep Adv
. 2024 Aug;
1(4):666-677.
PMID: 39132075
Background And Aims: Gastrointestinal (GI) dysmotility is a common and debilitating clinical manifestation in patients with mitochondrial DNA (mtDNA)-related disease with no curative and few effective symptomatic therapies. A low-residue...