Afiliat la IMSP Institutul de Medicină Urgentă

2021 - 3

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease

Breza Marianthi , Hirst Jennifer , Chelban Viorica , Autor Nou

Movement Disorders

Nr. 4(36) / 2021 / ISSN 0885-3185 / ISSNe 1531-8257

Disponibil online 6 May, 2021

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Familial epilepsy – clinical-epidemiological characteristics and next-generation sequencing in the Republic of Moldova’s population

Gasnaș (Catereniuc) Daniela , Chelban Viorica , Groppa Stanislav

7th Congress of the Society of Neurologists Issue of the Republic of Moldova

Vol.64. 2021. Chişinău. Revista Curier Medical. 26-26.

Disponibil online 27 September, 2021

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Spastic paraplegia preceding psen1-related familial alzheimer’s disease

Chelban Viorica , Breza Marianthi , Szaruga Maria , Vandrovcova Jana , Bourinaris Thomas , Lee Chia Ju , Alikhwan S. , Noi Autori

Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring

Nr. 1(13) / 2021 / ISSN 2352-8729 / ISSNe 2352-8729

Disponibil online 29 June, 2021

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2020 - 4

Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis

Cuenca Marc Vila , Chelban Viorica

International Journal of Molecular Sciences

Nr. 7(21) / 2020 / ISSN 1661-6596 / ISSNe 1422-0067

Disponibil online 8 October, 2020

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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

Keller Natalie , Mendoza-Ferreira Natalia , Maroofian Reza , Chelban Viorica , Khalil Youssef , Mills Philippa B. , Boostani Reza , Torbati Paria Najarzadeh , Karimiani Ehsan Ghayoor , Thiele Holger , Houlden Henry H. , Wirth Brunhilde , Karakaya Mert

Neuromuscular Disorders

Nr. 7(30) / 2020 / ISSN 0960-8966 / ISSNe 1874-2364

Disponibil online 9 October, 2020

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Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

Chelban Viorica , Alsagob M. , Groppa Stanislav

European Journal of Neurology

Nr. 2(27) / 2020 / ISSN 1351-5101 / ISSNe 1468-1331

Disponibil online 12 March, 2020

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Automated brainstem segmentation detects differential involvement in atypical parkinsonian syndromes

Bocchetta Martina , Iglesias Juan Eugenio , Chelban Viorica

Journal of Movement Disorders

Nr. 1(13) / 2020 / ISSN 2005-940X

Disponibil online 21 October, 2020

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2019 - 2

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation

Chelban Viorica , Wilson Matthew P.

Annals of Neurology

Nr. 2(86) / 2019 / ISSN 0364-5134

Disponibil online 24 July, 2019

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An update on advances in magnetic resonance imaging of multiple system atrophy

Chelban Viorica , Bocchetta Martina , Hassanein Sara M. , Haridy Nourelhoda , Houlden Henry H. , Rohrer Jonathan Daniel

Journal of Neurology

Vol. 266, / 2019 / ISSN 0340-5354 / ISSNe 1432-1459

Disponibil online 28 April, 2021

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2018 - 3

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Chelban Viorica , Wiethoff Sarah

Movement Disorders

Nr. 7(33) / 2018 / ISSN 0885-3185 / ISSNe 1531-8257

Disponibil online 8 December, 2018

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Lysosomal storage disorder gene variants in multiple system atrophy

Pihlstrom Lasse , Schottlaender Lucia V. , Chelban Viorica , Meissner Wassilios G. , Federoff Monica , Singleton Andrew B. , Houlden Henry H.

Brain

Nr. 7(141) / 2018 / ISSN 0006-8950 / ISSNe 1460-2156

Disponibil online 20 July, 2021

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Autonomic dysfunction in genetic forms of synucleinopathies

Chelban Viorica , Vichayanrat Ekawat , Schottlaender Lucia V. , Iodice Valeria , Houlden Henry H.

Movement Disorders

Nr. 3(33) / 2018 / ISSN 0885-3185 / ISSNe 1531-8257

Disponibil online 5 June, 2021

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2017 - 2

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

Chelban Viorica , Tucci Arianna , Lynch David S. , Polke James M. , Santos Liana , Jonvik Hallgeir , Groppa Stanislav , Wood Nick , Houlden Henry H.

Journal of Neurology, Neurosurgery and Psychiatry

Nr. 8(88) / 2017 / ISSN 0022-3050

Disponibil online 15 February, 2018

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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Chelban Viorica , Patel Nisha

American Journal of Human Genetics

Nr. 6(100) / 2017 / ISSN 0002-9297

Disponibil online 21 February, 2018

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