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25 results on '"Federica Taioli"'

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1. Rare among Rare: Phenotypes of Uncommon CMT Genotypes

2. Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis

3. Very early onset of ATTRE89Q amyloidosis in a homozygous patient

4. Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene

5. Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs

6. The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study

7. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

8. Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

9. Considerable post-partum worsening in a patient with CMT2E

10. Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis

11. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene

12. Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype

13. Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation

14. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene

15. Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2

16. Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy

17. Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation

18. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

19. Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene

20. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0

21. PMP22 related congenital hypomyelination neuropathy

22. Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero

23. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

24. Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

25. Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskeleton.

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