Pages that link to "Q67217990"
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The following pages link to Patrick F. Chinnery (Q67217990):
Displaying 50 items.
- Treatment for mitochondrial disorders (Q24200432) (← links)
- Treatment for mitochondrial myopathy (Q24247852) (← links)
- The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates (Q24531956) (← links)
- Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder (Q24538459) (← links)
- Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia (Q24546476) (← links)
- Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease (Q24607578) (← links)
- The epidemiology of Leber hereditary optic neuropathy in the North East of England (Q24611047) (← links)
- Multi-system neurological disease is common in patients with OPA1 mutations (Q24619312) (← links)
- Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls (Q24657699) (← links)
- Mitochondria (Q24671804) (← links)
- Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background (Q24678122) (← links)
- A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians. (Q24794539) (← links)
- Mitochondrial disease in adults: what's old and what's new? (Q26776417) (← links)
- Prevalence of neurogenetic disorders in the North of England (Q26784050) (← links)
- Mitochondrial genetics (Q26849285) (← links)
- Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients (Q26866251) (← links)
- Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA (Q27860870) (← links)
- The Human Phenotype Ontology in 2017 (Q27927007) (← links)
- Leber Hereditary Optic Neuropathy (Q28079259) (← links)
- Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies (Q28115704) (← links)
- TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies (Q28115863) (← links)
- Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies (Q28118354) (← links)
- Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA (Q28119039) (← links)
- The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy (Q28141172) (← links)
- Mitochondrial DNA and disease (Q28141431) (← links)
- Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) (Q28198864) (← links)
- An investigation of mitochondrial haplogroups in autism (Q28262949) (← links)
- Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1 (Q28285385) (← links)
- Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism (Q28304024) (← links)
- Mitochondrial DNA and traumatic brain injury (Q28391069) (← links)
- Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes (Q28658594) (← links)
- Unique mitochondrial DNA in highly inbred feral cattle (Q28714302) (← links)
- A multiple sclerosis-like disorder in patients withOPA1mutations (Q29042263) (← links)
- Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. (Q29417095) (← links)
- Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations (Q30319854) (← links)
- Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. (Q30368393) (← links)
- Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance (Q30414484) (← links)
- EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia (Q30434640) (← links)
- Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study (Q30437792) (← links)
- Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study (Q30438950) (← links)
- Replication of association between ELAVL4 and Parkinson disease: the GenePD study (Q30439050) (← links)
- Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study (Q30439341) (← links)
- The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study (Q30440660) (← links)
- Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration (Q30495242) (← links)
- No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls (Q30532736) (← links)
- Clinical reasoning: a 39-year-old man with abdominal cramps. (Q30544593) (← links)
- Teaching video neuroimages: muscle cramps and a raised creatine kinase (Q30585080) (← links)
- Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features (Q31125205) (← links)
- POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease (Q33314705) (← links)
- Normokalemic periodic paralysis revisited: does it exist? (Q33337539) (← links)