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22Publicaţii

30Descărcări

5694Vizualizări

Chelban Viorica
Cuvinte-cheie (81): Multiple system atrophy (3), genetics (3), Whole exome sequencing (2)
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Articole în reviste din RM - 6. Publicaţii la conferinţe din RM - 1. Publicaţii peste hotare - 15.
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SM ISO690:2012

2021 - 1

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease
Breza Marianthi1, Hirst Jennifer2, Chelban Viorica34
1 National and Kapodistrian University of Athens,
2 University of Cambridge,
3 UCL Institute of Neurology,
4 Emergency Medicine Institute
Movement Disorders
Nr. 4(36) / 2021 / ISSN 0885-3185 / ISSNe 1531-8257
Disponibil online 6 May, 2021. Descarcări-0. Vizualizări-12
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2020 - 8

An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention
Chelban Viorica12, Catereniuc Daniela23, Aftene Daniela32, Gasnaş Alexandru32, Vichayanrat Ekawat4, Iodice Valeria4, Groppa Stanislav23, Houlden Henry H.14
1 University College London,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 Emergency Medicine Institute,
4 National Hospital for Neurology and Neurosurgery, Queen Square
Journal of Neurology
Nr. 9(267) / 2020 / ISSN 0340-5354 / ISSNe 1432-1459
Disponibil online 13 October, 2020. Descarcări-0. Vizualizări-93
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Aplicabilitatea testării genetice de nouă generație în epilepsie prin prisma secvențierii întregului exom
Catereniuc Daniela1, Chelban Viorica2, Groppa Stanislav1
1 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
2 UCL Institute of Neurology
Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”
2020. Chişinău. .
Disponibil online 29 March, 2021. Descarcări-0. Vizualizări-47
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Applicability of next generation genetic testing in epilepsy through whole exome sequencing
Catereniuc Daniela12, Chelban Viorica12, Groppa Stanislav1
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 University College London
Moldovan Medical Journal
Nr. 5(63) / 2020 / ISSN 2537-6373 / ISSNe 2537-6381
Disponibil online 7 December, 2020. Descarcări-2. Vizualizări-82
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Automated brainstem segmentation detects differential involvement in atypical parkinsonian syndromes
Bocchetta Martina1, Iglesias Juan Eugenio1, Chelban Viorica12
1 University College London,
2 Emergency Medicine Institute
Journal of Movement Disorders
Nr. 1(13) / 2020 / ISSN 2005-940X
Disponibil online 21 October, 2020. Descarcări-0. Vizualizări-75
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Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis
Cuenca Marc Vila1, Chelban Viorica2
1 Josep Carreras Leukaemia Research Institute (IJC), Barcelona,
2 Emergency Medicine Institute
International Journal of Molecular Sciences
Nr. 7(21) / 2020 / ISSN 1661-6596 / ISSNe 1422-0067
Disponibil online 8 October, 2020. Descarcări-0. Vizualizări-91
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Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination
Chelban Viorica12, Alsagob M.3, Groppa Stanislav2
1 University College London,
2 Emergency Medicine Institute,
3 Department of Genetics, KFSHRC, Riyadh
European Journal of Neurology
Nr. 2(27) / 2020 / ISSN 1351-5101
Disponibil online 12 March, 2020. Descarcări-0. Vizualizări-395
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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism
Keller Natalie1, Mendoza-Ferreira Natalia1, Maroofian Reza2, Chelban Viorica34, Khalil Youssef5, Mills Philippa B.5, Boostani Reza6, Torbati Paria Najarzadeh7, Karimiani Ehsan Ghayoor2, Thiele Holger1, Houlden Henry H.8, Wirth Brunhilde1, Karakaya Mert1
1 University of Cologne,
2 St. George's University of London,
3 UCL Institute of Neurology,
4 Emergency Medicine Institute,
5 University College London,
6 Mashhad University of Medical Sciences,
7 Next Generation Genetic Polyclinic, Mashhad,
8 Necunoscută, Marea Britanie
Neuromuscular Disorders
Nr. 7(30) / 2020 / ISSN 0960-8966 / ISSNe 1874-2364
Disponibil online 9 October, 2020. Descarcări-0. Vizualizări-92
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MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
Chelban Viorica1, Salsano Ettore2, Groppa Stanislav3
1 UCL Institute of Neurology,
2 Emergency Medicine Institute,
3 University of Nottingham
Neurology: Genetics
Nr. 2(6) / 2020 / ISSN 2376-7839 / ISSNe 2376-7839
Disponibil online 2 October, 2020. Descarcări-0. Vizualizări-126
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2019 - 2

An update on advances in magnetic resonance imaging of multiple system atrophy
Chelban Viorica12, Bocchetta Martina1, Hassanein Sara M.3, Haridy Nourelhoda A.13, Houlden Henry H.1, Rohrer Jonathan Daniel1
1 UCL Institute of Neurology,
2 Emergency Medicine Institute,
3 Assiut University Hospital, Assiut
Journal of Neurology
Nr. 4(266) / 2019 / ISSN 0340-5354 / ISSNe 1432-1459
Disponibil online 28 April, 2021. Descarcări-0. Vizualizări-20
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation
Chelban Viorica12, Wilson Matthew P.1
1 University College London,
2 Emergency Medicine Institute
Annals of Neurology
Nr. 2(86) / 2019 / ISSN 0364-5134
Disponibil online 24 July, 2019. Descarcări-0. Vizualizări-209
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2018 - 1

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
Chelban Viorica123, Wiethoff Sarah14
1 University College London,
2 National Hospital for Neurology and Neurosurgery, Queen Square,
3 Emergency Medicine Institute,
4 Eberhard Karls University
Movement Disorders
Nr. 7(33) / 2018 / ISSN 0885-3185 / ISSNe 1531-8257
Disponibil online 8 December, 2018. Descarcări-0. Vizualizări-287
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2017 - 5

Analysis of the prion protein gene in multiple system atrophy
Chelban Viorica123, Manole Andreea13, Pihlstrøm Lasse134, Schottlaender Lucia V.13, Efthymiou Stephanie13, OConnor Emer31, Meissner Wassilios G.56, Holton Janice L.713, Houlden Henry H.13
1 University College London,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 National Hospital for Neurology and Neurosurgery, Queen Square,
4 University of Oslo,
5 Universite de Bordeaux, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux,
6 Centre de référence atrophie multisystématisée, CHU de Bordeaux, Bordeaux,
7 Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, London
Neurobiology of Aging
Nr. 49 / 2017 / ISSN 0197-4580
Disponibil online 3 July, 2018. Descarcări-0. Vizualizări-284
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Bettencourt C.1, Salpietro Vincenzo1, Efthymiou Stephanie1, Chelban Viorica12, Hughes Deborah1, Houlden Henry H.1, Federoff Monica13, Bourinaris Thomas4, Spilioti Martha G5, Deretzi Georgia4, Kalantzakou Triantafyllia4, Singleton Andrew B.3, Xiromerisiou Georgia4
1 University College London,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 National Institute on Aging, National Institutes of Health, Bethesda,
4 Papageorgiou Hospital, Thessaloniki,
5 University of Thessaloniki, AHEPA University Hospital, Thessaloniki
Orphanet Journal of Rare Diseases
Nr. 1(12) / 2017 / ISSN 1750-1172
Disponibil online 11 December, 2017. Descarcări-1. Vizualizări-303
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Mutația genei NKX6-2 – factor cauzal al ataxiei spastice progresive și hipomielinizare
Chelban Viorica
Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
Buletinul Academiei de Ştiinţe a Moldovei. Ştiinţe Medicale
Nr. 5(57) / 2017 / ISSN 1857-0011
Disponibil online 11 January, 2018. Descarcări-3. Vizualizări-274
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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
Chelban Viorica12, Patel Nisha3
1 University College London,
2 Emergency Medicine Institute,
3 Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center
American Journal of Human Genetics
Nr. 6(100) / 2017 / ISSN 0002-9297
Disponibil online 21 February, 2018. Descarcări-1. Vizualizări-284
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Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
Chelban Viorica12, Tucci Arianna3, Lynch David S.4, Polke James M.4, Santos Liana5, Jonvik Hallgeir5, Groppa Stanislav2, Wood Nick5, Houlden Henry H.1
1 Necunoscută, Marea Britanie,
2 Emergency Medicine Institute,
3 University of Milan,
4 University College London,
5 UCL Institute of Neurology
Journal of Neurology, Neurosurgery and Psychiatry
Nr. 8(88) / 2017 / ISSN 0022-3050
Disponibil online 15 February, 2018. Descarcări-2. Vizualizări-364
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2016 - 1

Severe axonal neuropathy is a late manifestation of SPG11
Manole Andreea1, Chelban Viorica23, Haridy Nourelhoda A.1, Hamed Sherifa Ahmed4, Berardo Andrés5, Reilly Mary M.1, Houlden Henry H.1
1 University College London (UCL), London,
2 University College London,
3 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
4 Assiut University Hospital, Assiut,
5 Instituto de Investigaciónes Medicas “Mercedes y Martín Ferreyra”
Journal of Neurology
Nr. 11(263) / 2016 / ISSN 0340-5354 / ISSNe 1432-1459
Disponibil online 22 November, 2017. Descarcări-1. Vizualizări-262
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2010 - 3

Aplicarea clinică a marcherilor cardiaci în sindromul coronarian acut
Gherman Olimpia, Rabovila Ala, Dumbravă Taisia, Chelban Viorica
Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
Buletinul Academiei de Ştiinţe a Moldovei. Ştiinţe Medicale
Nr. 3(26) / 2010 / ISSN 1857-0011
Disponibil online 16 December, 2013. Descarcări-3. Vizualizări-580
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Managementul contemporan activ şi expectativ de rutină la pacientele cu preeclampsie severă
Chelban Viorica, Belousov Tatiana
Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
Analele Ştiinţifice ale USMF „N. Testemiţanu”
Nr. 5(11) / 2010 / ISSN 1857-1719
Disponibil online 13 December, 2013. Descarcări-5. Vizualizări-588
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