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1,146 results on '"Chinnery P"'

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254. Genes and Cognition, a recallable cohort to study Dementia/Alzheimer's disease.

255. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

257. Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.

258. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

259. Exome reanalysis and proteomic profiling identified TRIP4as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

260. Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

261. Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases

262. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

263. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

264. Global variation in postoperative mortality and complications after cancer surgery: a multicentre, prospective cohort study in 82 countries

265. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

266. Identification of UBAP1mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

267. Whole-genome sequencing of patients with rare diseases in a national health system

268. Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos

272. Evaluating the efficacy and safety of therapeutic interventions for corneal neuropathy: A systematic review

274. Point Mutations of the mtDNA Control Region in Normal and Neurodegenerative Human Brains

276. Analysis of European mtDNAs for Recombination

277. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

278. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

280. Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

281. Exome sequencing in dementia with Lewy bodies

282. OD03 - Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases

283. Opportunities for mitochondrial disease gene therapy

285. An investigation of the nature of termination of pregnancy counselling within the current system of licensed facilities.

287. Destiny and Self-Formation.

288. The Penetration of Solar Radiation Into Water and Carbon Dioxide Snow, With Reference to Mars

289. Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

290. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

295. Genetic heterogeneity of motor neuropathies.

297. LRRK2 exonic variants and risk of multiple system atrophy

298. A.P.2

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