384 results on '"Kennerson, Marina"'
Search Results
52. Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
53. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
54. Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
55. GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies
56. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
57. Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies
58. Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease.
59. Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy.
60. Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
61. Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6C. elegansmodel
62. Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults
63. Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region
64. A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36
65. Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults
66. A molecular analysis of genes involved in disruption of hypothalamo-pituitary-gonadal axis causing delay in onset of male puberty
67. A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma
68. Author response: A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma
69. Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes
70. Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region
71. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
72. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
73. A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
74. A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A
75. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
76. A Recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)
77. X-linked CMT: genes and gene loci in an Australian cohort
78. Determinants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP Study
79. A Non-Genetic, Cell Cycle Dependent Mechanism of Platinum Resistance in Lung Adenocarcinoma
80. RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome
81. YB-1 Knockdown Inhibits the Proliferation of Mesothelioma Cells through Multiple Mechanisms
82. Modafinil Effects during Acute Continuous Positive Airway Pressure Withdrawal: A Randomized Crossover Double-Blind Placebo-controlled Trial
83. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
84. Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re-oxygenation injury
85. A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
86. GGC Repeat Expansion of in Taiwanese Patients With Inherited Neuropathies.
87. Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
88. Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: : exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
89. Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
90. Predicting the Impact of PHEX, FGF23 and DMP1 Gene Variants Found in Malaysian Malay Patients with Hypophosphataemic Rickets Through In Silico Analysis of Protein Function and mRNA Secondary Structure
91. CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation
92. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
93. Exclusion of serine palmitoyltransferase long chain base subunit 2 ( SPTLC2) as a common cause for hereditary sensory neuropathy
94. GGC Repeat Expansion of NOTCH2NLCin Taiwanese Patients With Inherited Neuropathies
95. Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations
96. A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's diseaseGBAgene
97. Unique clinical and neurophysiologic profile of a cohort of children with CMTX3
98. Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
99. Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1
100. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
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