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1
Urbach Wiethe Disease: uncovering the role of an ECM1 mutation in BBB dysfunction
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Article
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Urbach Wiethe Disease: uncovering the role of an ECM1 mutation in BBB dysfunction

Journal of neurology, neurosurgery and psychiatry, 2023-11, Vol.94 (Suppl 1), p.A15-A15 [Peer Reviewed Journal]

2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/JNNP-2023-ABN.44

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2
Can ParC Ser83Ile status predict fluoroquinolone efficacy in Mycoplasma genitalium infection? – Authors’ reply
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Article
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Can ParC Ser83Ile status predict fluoroquinolone efficacy in Mycoplasma genitalium infection? – Authors’ reply

The Lancet infectious diseases, 2022-09, Vol.22 (9), p.1274-1275 [Peer Reviewed Journal]

2022 Elsevier Ltd ;2022. Elsevier Ltd ;ISSN: 1473-3099 ;EISSN: 1474-4457 ;DOI: 10.1016/S1473-3099(22)00446-7

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3
New tool points to mutation behind Delta's infectiousness
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Article
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New tool points to mutation behind Delta's infectiousness

Science (American Association for the Advancement of Science), 2021-11, Vol.374 (6569), p.800-801 [Peer Reviewed Journal]

Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.acx9606 ;PMID: 34762457

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4
286 Establishment and comparison of three subtypes from a human uterine carcinosarcoma cell line (ESCA)
Material Type:
Conference Proceeding
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286 Establishment and comparison of three subtypes from a human uterine carcinosarcoma cell line (ESCA)

International journal of gynecological cancer, 2023, Vol.33 (Suppl 3), p.A65-A66 [Peer Reviewed Journal]

2023 IGCS and ESGO 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1048-891X ;EISSN: 1525-1438 ;DOI: 10.1136/ijgc-2023-ESGO.131

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5
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
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Article
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F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy

Journal of neurology, neurosurgery and psychiatry, 2021-09, Vol.92 (Suppl 1), p.A30-A30 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2021-EHDN.71

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6
S03.2 What is the role of quinolone resistance testing in the management of M. genitalium?
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Article
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S03.2 What is the role of quinolone resistance testing in the management of M. genitalium?

Sexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A7-A8 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2021-sti.27

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7
P052 Performance of Three Commercial Molecular Diagnostic Assays for the Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance
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Article
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P052 Performance of Three Commercial Molecular Diagnostic Assays for the Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance

Sexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A74-A74 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2021-sti.196

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8
223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk
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Article
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223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e56-e56 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2019-ABN-2.188

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9
15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
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Article
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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e4-e5 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2019-ABN-2.13

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10
272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
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Article
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272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e64-e64 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2019-ABN-2.216

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11
AIR TRAVELLER YIELDS A NEW VARIANT BRISTLING WITH MUTATIONS
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Article
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AIR TRAVELLER YIELDS A NEW VARIANT BRISTLING WITH MUTATIONS

Nature (London), 2021-04, Vol.592 (7854), p.331-331 [Peer Reviewed Journal]

Copyright Nature Publishing Group Apr 15, 2021 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/d41586-021-00962-8

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12
Author Correction: Parent-of-origin-specific signatures of de novo mutations
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Article
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Author Correction: Parent-of-origin-specific signatures of de novo mutations

Nature genetics, 2018-11, Vol.50 (11), p.1615-1615 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2018 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0226-5 ;PMID: 30291356

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13
GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations
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Article
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GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations

Journal of the American College of Cardiology, 2018-10, Vol.72 (16), p.C170-C170 [Peer Reviewed Journal]

2018 ;Copyright Elsevier Limited Oct 16, 2018 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.08.762

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14
296 Longitudinal measurement of serum NFL in early familial AD
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Article
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296 Longitudinal measurement of serum NFL in early familial AD

Journal of neurology, neurosurgery and psychiatry, 2018-10, Vol.89 (10), p.A47-A47 [Peer Reviewed Journal]

2018, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;2018 2018, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2018-ABN.160

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15
276 A new face for an old foe?
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Article
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276 A new face for an old foe?

Journal of neurology, neurosurgery and psychiatry, 2018-10, Vol.89 (10), p.A40-A40 [Peer Reviewed Journal]

2018, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;2018 2018, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2018-ABN.140

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16
F02 A cluster of HD in italy with several subjects carrying cag expansion homozygousity in different generations and genetic risk over 50
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Article
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F02 A cluster of HD in italy with several subjects carrying cag expansion homozygousity in different generations and genetic risk over 50

Journal of neurology, neurosurgery and psychiatry, 2018-09, Vol.89 (Suppl 1), p.A41 [Peer Reviewed Journal]

2018 2018, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2018-EHDN.108

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17
Upregulated ECM genes and increased synaptic activity in Parkinson's human DA neurons with PINK1/ PRKN mutations
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Article
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Upregulated ECM genes and increased synaptic activity in Parkinson's human DA neurons with PINK1/ PRKN mutations

NPJ Parkinson's Disease, 2024-05, Vol.10 (1), p.103-103 [Peer Reviewed Journal]

2024. The Author(s). ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2024 ;ISSN: 2373-8057 ;EISSN: 2373-8057 ;DOI: 10.1038/s41531-024-00715-0 ;PMID: 38762512

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18
Unveiling the role of iPLA 2 β in neurodegeneration: From molecular mechanisms to advanced therapies
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Article
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Unveiling the role of iPLA 2 β in neurodegeneration: From molecular mechanisms to advanced therapies

Pharmacological research, 2024-04, Vol.202, p.107114 [Peer Reviewed Journal]

Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved. ;EISSN: 1096-1186 ;PMID: 38395207

Digital Resources/Online E-Resources

19
P608 Simpleprobe PCR assay for detection of mutations associated with macrolide resistance in mycoplasma genitalium samples
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Article
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P608 Simpleprobe PCR assay for detection of mutations associated with macrolide resistance in mycoplasma genitalium samples

Sexually transmitted infections, 2019-07, Vol.95 (Suppl 1), p.A269 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2019-sti.676

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20
P597 Comparison of assays and specimen types for the diagnosis of mycoplasma genitalium and macrolide resistant mutations
Material Type:
Article
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P597 Comparison of assays and specimen types for the diagnosis of mycoplasma genitalium and macrolide resistant mutations

Sexually transmitted infections, 2019-07, Vol.95 (Suppl 1), p.A265 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2019-sti.666

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