1,151 results on '"Chinnery, P"'
Search Results
352. P.15.7 A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure
353. O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies
354. ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS?
355. Clinical Reasoning: A 39-year-old man with abdominal cramps
356. Exome sequencing: how to understand it
357. Mitochondrial genetics
358. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease
359. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
360. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
361. Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?
362. Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.
363. Social work's fingerprint on the evolution of attachment theory: Some essential knowledge for care practice.
364. Actions, Consequences, and Community Boundaries: A response to John Covaleskie.
365. EXOME SEQUENCING IN THREE FAMILIES WITH CYTOPLASMIC BODY MYOPATHY WITH EARLY RESPIRATORY FAILURE
366. Universal heteroplasmy of human mitochondrial DNA
367. OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy
368. 071 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers
369. The minimum prevalence of CADASIL in northeast England
370. P96 Clinical research activity in Newcastle MRC centre
371. 018 Neuroferritinopathy: a new finding in a novel disease
372. 1624 Myoclonus dystonia: a clinical and genetic description: Table 1
373. 003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene
374. 101 Systematic review of controlled trials in the treatment of mitochondrial disorders
375. 100 Anti-retroviral exposure and somatic mitochondrial DNA mutations
376. 161 15–30 Hz intermuscular coherence as a potential biomarker of upper motor neuron dysfunction in motor neuron disease
377. Dysfunctional mitochondrial maintenance: what breaks the circle of life?
378. Phenotypic Characterization of EIF2AK4Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
379. PLP1mutations and central demyelination
380. Rocking the Cradle or the Boat? Assessing Grandparent Partner Relationships
381. Childhood-onset Leber hereditary optic neuropathy
382. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource
383. RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions
384. Reply: Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation
385. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia
386. An unusual gait following the discovery of a new disease
387. Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations
388. Mitochondria and cortical gamma oscillations: food for thought?
389. A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
390. Reply: Heterozygous OPA1 mutations in Behr syndrome
391. PAW34 Mutations in OPA1 expand the clinical phenotype of mitochondrial disease
392. OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy
393. The age of single-gene neurological disorders is not dead
394. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
395. Defining neurogenetic phenotypes (or how to compare needles in haystacks)
396. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
397. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
398. OPA1 increases the risk of normal but not high tension glaucoma
399. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
400. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase (POLG1)
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.