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115 results on '"Fattal-Valevski A"'

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1. Disordered Eating Behaviors in Young Individuals With Idiopathic Intracranial Hypertension

2. Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage

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3. Variable Genotype–Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene

4. Neurodevelopmental outcome of children born with an isolated atretic cephalocele

5. Cannabidiol-enriched oil in children and adults with treatment-resistant epilepsy-does tolerance exist?

6. The role of orotic acid measurement in routine newborn screening for urea cycle disorders

7. Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy

8. Fulminant Acute Disseminated Encephalomyelitis: A Remarkable Outcome with Cyclophosphamide

9. Medical treatment of tuberous sclerosis-related epilepsy

10. The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children

11. The endocrine manifestations of spinal muscular atrophy, a real-life observational study

12. Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy

13. Prediction of Drug-Resistant Epilepsy in Children With Cerebral Palsy

14. The safety, tolerability, and effectiveness of PTL-101, an oral cannabidiol formulation, in pediatric intractable epilepsy: A phase II, open-label, single-center study

15. Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients

16. Effect of natalizumab treatment on the rate of No Evidence of Disease Activity in young adults with multiple sclerosis in relation to pubertal stage

17. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

18. Nutritional Therapy in Children With Spinal Muscular Atrophy in the Era of Nusinersen

19. Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A)

20. Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

21. Controlled Amnioreduction for Twin-to-Twin Transfusion Syndrome: Perinatal and Long-Term Neurodevelopmental Outcome

22. Group behavioral interventions for tics and comorbid symptoms in children with chronic tic disorders

23. Nusinersen for spinal muscular atrophy type 1: Real-world respiratory experience

24. Neurodevelopmental outcomes in children with large temporal arachnoid cysts

25. Early risk factors for encephalopathic transformation in children with benign childhood epilepsy with centrotemporal spikes

26. Detection of copy number variations in epilepsy using exome data

27. Treatment Response in Pediatric Patients With Pseudotumor Cerebri Syndrome

28. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families

29. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

30. Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1–Related Disease

31. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study

32. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

33. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis

34. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

35. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

36. Increased Intracranial Pressure in Acute Disseminated Encephalomyelitis

37. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

38. A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia

39. Thiamine Deficiency in Infancy: Long-Term Follow-Up

40. The effect of subclinical infantile thiamine deficiency on motor function in preschool children

41. CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

42. Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement

43. Using a Virtual Classroom environment to describe the attention deficits profile of children with Neurofibromatosis type 1

44. Diagnostic delay of pediatric brain tumors in Israel: a retrospective risk factor analysis

45. The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes

46. The crucial role of thiamine in the development of syntax and lexical retrieval: a study of infantile thiamine deficiency

47. Pediatric Neurologic Complications Associated With Influenza A H1N1

48. Thiamine (Vitamin B1)

49. Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

50. Abstract P-542