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31 results on '"Guillaume Banneau"'

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1. Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

2. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

4. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET

6. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

7. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

8. Evidence of mosaicism in SPAST variant carriers in four French families

9. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

10. Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease

11. RNF170-related hereditary spastic paraplegia: confirmation by a novel mutation

12. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

13. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

14. Intérêt d’un panel de gènes de paraparésies spastiques héréditaires

15. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

16. An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

17. Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

18. Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

19. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

20. Paraplegie spastiche ereditarie

21. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

22. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

23. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review

24. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

25. Comprehensive analysis of PTEN status in breast carcinomas

26. SPG11 : caractéristiques cliniques et histoire naturelle

27. An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis

28. Comprehensive analysis of PTEN status in breast carcinomas

29. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations

30. Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

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