35 results on '"Tranchant C"'
Search Results
2. Supplement to: The autosomal recessive cerebellar ataxias.
3. Phenotype and genotype comparative study of typical, late onset and very late onset Friedreich ataxia: 1295
4. Phenotypic classification of essential tremor: 1158
5. Complications of duododopa therapy: 371
6. Acute methanol intoxication: A rare cause of axial Parkinsonism: 279
7. ARCA3 due to ANO10 mutations: Delineation and genotype/phenotype correlation study: 178
8. SPG15: A cause of juvenile atypical levodopa responsive Parkinsonism: 152
9. Movement disorders spectrum in adults with ataxia telangiectasia: 137
10. Phenotypic and genetic features of recessive POLG1 mutations: A multicentric retrospective study: 116
11. Comparative usefulness of corpus callosum splenium versus middle cerebellar peduncle hyperintensity in FXTAS: 115
12. ARCA3 due to ANO10 mutations: delineation and genotype/phenotype correlation study: EP4246
13. OPTIPUMP study: impact of apomorphine pump therapy at 6 months on 145 parkinsonian patients’ quality of life. A multicentre French observational prospective study: OS2214
14. Supplement to: Neuromuscular symptoms and elevated creatine kinase after statin withdrawal.
15. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinsonʼs disease with a sexual dimorphism
16. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinsonʼs disease in the European population
17. Large-scale screening of the Gaucherʼs disease-related glucocerebrosidase gene in Europeans with Parkinsonʼs disease
18. Parkinsonʼs disease-related LRRK2 G2019S mutation results from independent mutational events in humans
19. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
20. AN ADORA2A POLYMORPHISM MODIFIES AGE AT ONSET IN HUNTINGTONʼS DISEASE
21. Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease
22. AUTOIMMUNE HEARING LOSS IN CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY (CIDP)
23. Cardiovascular disease-risk factors in middle-aged osteopaenic women treated with calcium alone or combined to three nutrients essential to artery and bone collagen
24. Ataxic variant of Alzheimer’s disease caused by Pro117Ala PSEN1 mutation
25. Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia
26. Clinical and electrophysiological phenotype of myoclonus dystonia due to epsilon sarcoglycan gene mutations: 16
27. Original clinical and biological findings in 3 new mutations of the senataxin gene: 4
28. Late onset stroke and myocardial infarction in Williams syndrome
29. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
30. Familial prion diseases: FW6-3
31. Genetic control of autoantibody expression in autoimmune myasthenia gravis: role of the self-antigen and of HLA-linked loci
32. Dietary macro- and micronutrient intakes of nonsupplemented pre- and postmenopausal women with a perspective on menopause-associated diseases
33. Association of the gene encoding the δ-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis
34. Kennedy's Disease Initially Manifesting as an Endocrine Disorder
35. Neurofibrillary tangles in Gerstmann-Straussler-Scheinker syndrome with the A117V prion gene mutation
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