242 results on '"Helman, Guy"'
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2. Biallelic PI4KA variants cause neurological, intestinal and immunological disease
3. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
4. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
5. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
6. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
7. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
8. TUBB4A de novo mutations cause isolated hypomyelination
9. Chapter 2 - Approaches to diagnosis for individuals with a suspected inherited white matter disorder
10. Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome
11. BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION
12. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis
13. The spectrum of adult-onset heritable white-matter disorders
14. SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
15. Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
16. HeterozygousNOTCH1Variants Cause CNS Immune Activation and Microangiopathy
17. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
18. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
19. mRNA-based vaccines against SARS-CoV-2 do not stimulate interferon stimulatory gene expression in individuals affected by Aicardi Goutières Syndrome
20. Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects
21. Mainstreaming proteomics into rare disease diagnostics
22. Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants
23. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
24. Whole Exome Sequencing in Patients with White Matter Abnormalities
25. Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
26. Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
27. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy
28. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
29. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis
30. BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS
31. The Urea Cycle Disorders
32. De novo Mutations in TOMM70, a central receptor of the mitochondrial import translocase, Causes Developmental Delay and Neurological Phenotypes
33. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10
34. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
35. Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description
36. Janus Kinase Inhibition in the Aicardi–Goutières Syndrome
37. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing
38. RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.
39. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
40. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
41. Genome sequencing in persistently unsolved white matter disorders
42. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
43. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
44. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
45. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
46. Heterozygous variants in the mechanosensitive ion channelTMEM63Aresult in transient hypomyelination during infancy
47. Expanded Phenotype of GFPT1-related Disorder is a Mimicker of Mitochondrial Leukoencephalopathy (P4.6-049)
48. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
49. Aicardi goutières syndrome is associated with pulmonary hypertension
50. Expanded phenotype of AARS1-related white matter disease
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