Lydia Green
Leeds Teaching Hospitals NHS Trust
Compound heterozygosityInternal medicinePathologyMutantMagnetic resonance imagingMolecular biologyExome sequencingLeukodystrophyOligodendrocyteInfliximabImmunotherapyAge of onsetAlexander diseaseDemyelinating diseaseLeukoencephalopathyPonsGenetic disorderSpasticityDiseaseLymphomaNystagmusPeripheral neuropathyGlial fibrillary acidic proteinAtaxiaNatalizumabAtrophyCerebral hypomyelinationEndolysosomeExonMutationGeneticsMedicineMissense mutationBiologyGastroenterology
4Publications
3H-index
20Citations
Publications 4
Newest
#1Marisa I. Mendes (VU: VU University Amsterdam)H-Index: 10
#2Lydia GreenH-Index: 3
Last. Nicole I. Wolf (VU: VU University Amsterdam)H-Index: 50
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Objective: Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1-related disease, and to identify possible genotype-phenotype relationships. Methods: We performed a multinational cross-sectional survey among 20 patients with biallelic RARS1 variants identified by next-generation sequencing techniques. Clinical data, ...
5 CitationsSource
#1Guy M. Lenk (UM: University of Michigan)H-Index: 23
#2Ian R. Berry (Leeds Teaching Hospitals NHS Trust)H-Index: 9
Last. Miriam H. Meisler (Leeds Teaching Hospitals NHS Trust)H-Index: 66
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The lipid phosphatase gene FIG4 is responsible for Yunis-Varon syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Affected individuals inherited biallelic FIG4 variants from heterozygous parents. Cult...
6 CitationsSource
#1Mario Sa (GOSH: Great Ormond Street Hospital)H-Index: 3
#2Lydia Green (Leeds Teaching Hospitals NHS Trust)H-Index: 3
Last. Yael Hacohen (UCL Institute of Neurology)H-Index: 25
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: A INFLAMACAO LINFOCITICA CRONICA COM REALCE PERIVASCULAR PONTINO RESPONSIVA A ESTEROIDES (CLIPPERS) E A MESMA CONDICAO EM CRIANCAS E ADULTOS?: Esta serie de casos descreve tres criancas com inflamacao linfocitica cronica com realce perivascular pontino responsiva a esteroides (CLIPPERS), uma condicao inflamatoria caracterizada por uma doenca com curso remissivo-recidivante responsive a esteroides. Os pacientes (dois meninos, idades 3 e 13 anos; uma menina, idade 14 anos) apresentaram ataxia, d...
5 CitationsSource
#1Lydia Green (Leeds Teaching Hospitals NHS Trust)H-Index: 3
#2Ian R. Berry (St James's University Hospital)H-Index: 9
Last. John H. Livingston (Leeds Teaching Hospitals NHS Trust)H-Index: 31
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Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients with AD. However, patients with biopsy-proven AD have been reported in whom no GFAP mutation has been identified. We report identical twin boys presenting in infancy with seizures and developmental delay in whom MR appearances were suggestive of AD wit...
3 CitationsSource