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13 results on '"V. Nigro"'

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1. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.

2. Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

3. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

4. A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

5. Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results.

6. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

7. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

8. Effect of organic enrichment and thermal regime on denitrification and dissimilatory nitrate reduction to ammonium (DNRA) in hypolimnetic sediments of two lowland lakes.

9. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy.

10. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

11. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies.

12. A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.

13. Mutation of dystrophin gene and cardiomyopathy.

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