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2. Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

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3. Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency.

4. Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.

5. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

6. Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.

7. LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.

8. Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

9. The relative frequency of common neuromuscular diagnoses in a reference center.

10. Central core myopathy with autophagy.

11. Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.

12. Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

13. Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.

14. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

15. Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.

16. Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

17. Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension.

18. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

19. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.

20. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.

21. Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization.

22. Novel point mutations in the dystrophin gene.

23. Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?

24. Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.

25. Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

26. Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

27. Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

28. A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation.