40 results on '"Chrestian, Nicolas"'
Search Results
2. Identification of Novel Smartphone-Based Digital Biomarkers to Characterize Lower and Upper Limb Motor Functions in Patients with Duchenne Muscular Dystrophy (P3-11.005)
3. Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
4. Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
5. Oculopharyngeal Muscular Dystrophy
6. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update
7. Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
8. Adrenal insufficiency among children treated with hormonal therapy for infantile spasms
9. Clinical and genetic study of hereditary spastic paraplegia in Canada
10. Congenital Myopathies
11. Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review
12. Case Report: Two Families With HPDL Related Neurodegeneration
13. 71 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms
14. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
15. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
16. A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy
17. Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms (1898)
18. A founder mutation in thePLPBPgene in families fromSaguenay‐Lac‐St‐Jeanregion affected by a pyridoxine‐dependent epilepsy
19. Additional file 1 of Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
20. Supplemental Material, Add._file_1 - The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature
21. Oculopharyngeal Muscular Dystrophy
22. A National Spinal Muscular Atrophy Registry for Real-World Evidence
23. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
24. A First Case of Noonan Syndrome SOS2 related with Leukodystrophy, Disseminated Neurofibromas and Polyneuropathy (397)
25. The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature
26. Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians
27. Myotonia congenita-a cause of muscle weakness and stiffness
28. A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy.
29. 148 - Congenital Myopathies
30. Phenotype and Cognitive Profile in ELOVL4-Associated SCA34 (P6.089)
31. Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review
32. Response
33. Functional Outcomes in Hereditary Spastic Paraplegia: A Prospective Cohort Study (S43.005)
34. Two Novel Ataxia Phenotypes in the French-Canadian Population (P2.116)
35. A Broad Phenotype Related to a New POLG1 Mutation (P01.121)
36. A Novel Mutation in a Large French-Canadian Family with LGMD1B
37. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
38. A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.
39. Clinical and genetic study of hereditary spastic paraplegia in Canada.
40. Hereditary Neuropathy with Liability to Pressure Palsies
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