247 results on '"Biancalana, Valérie"'
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2. Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
3. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
4. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
5. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
6. A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
7. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
8. X-linked myotubular myopathy: A prospective international natural history study
9. Clinical, histological, and genetic characterization of PYROXD1-related myopathy
10. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
11. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
12. Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
13. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
14. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
15. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
16. Chapitre 22 - Maladies génétiques fréquentes de transmission non mendélienne : les maladies associées aux mutations dynamiques
17. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
18. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
19. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
20. A case ofASAH1‐related pure SMA evolving into adult‐onset Farber disease
21. Next generation sequencing for molecular diagnosis of neuromuscular diseases
22. Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall
23. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
24. “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
25. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
26. Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study
27. Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
28. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
29. Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
30. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
31. Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
32. Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome
33. SM2PH-db: An Interactive System for the Integrated Analysis of Phenotypic Consequences of Missense Mutations in Proteins Involved in Human Genetic Diseases
34. Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint
35. FMR1 Premutations Associated With Fragile X–Associated Tremor/Ataxia Syndrome in Multiple System Atrophy
36. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
37. Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
38. Expression of FMR1, FXR1, and FXR2 Genes in Human Prenatal Tissues
39. Liste des collaborateurs
40. Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies
41. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
42. Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
43. Genotype–phenotype correlations in X-linked myotubular myopathy
44. Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
45. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
46. Chapitre 22 - Maladies génétiques fréquentes de transmission non mendélienne : les maladies associées aux mutations dynamiques
47. A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
48. Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis
49. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
50. Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females
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