Niculina Butoianu

Carol Davila University of Medicine and Pharmacy — Romania

Medicine · Health Sciences

7h-index380citations37works0.22yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(10), Muscle Physiology and Disorders(7), RNA modifications and cancer(6), Multiple Sclerosis Research Studies(5), Epilepsy research and treatment(4)

Publications37 total

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment
Genes·2025Open Access
Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective Study
European Journal of Paediatric Neurology·2025
Age-Onset-Related Particularities of Pediatric MS—Understanding the Spectrum: A Tertiary Center Experience
Diseases·2025· 1 citedOpen Access
Therapeutic options and outcomes in pediatric-onset multiple sclerosis with a focus on fingolimod—Eastern European tertiary center experience and literature review
Balneo and PRM Research Journal·2025Open Access
Pediatric-Onset Multiple Sclerosis (POMS) and Epilepsy: Exploring Etiological Complexity—Outcomes from a Single-Center Experience
Children·2025Open Access
Exploring the Connection: Seizures and Epilepsy in Children with Multiple Sclerosis – Insights from a Single Center Experience
Preprints.org·2025Open Access
A Family-based Association Test of the VDR Gene in Proximal Spinal Muscular Atrophy
Romanian Journal of Military Medicine·2023Open Access
Expert council resolution on the use of pathogenetic therapy with Ataluren in patients with non-ambulatory Duchenne muscular dystrophy
L O Badalyan Neurological Journal·2023Open Access
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Neurology Genetics·2020· 21 citedOpen Access
A practical approach of the pediatric patient with obstetrical brachial plexus palsy starting from 28 cases – Single centre experience over 6 years
Romanian Journal of Military Medicine·2020Open Access
Acute Myocardial Injury in a Child with Duchenne Muscular Dystrophy: Pulse Steroid Therapy?
PubMed·2017· 13 cited
OC-49 Acute myocardial necrosis mimicking myocardial infarction in a duchenne disease case
2017
Familial SCN2A related epilepsy – Case report
European Journal of Paediatric Neurology·2017
Cerebral venous thrombosis in pediatric patients – Clinical and imaging aspects
European Journal of Paediatric Neurology·2017
Myositis non-inflammatory mechanisms: An up-dated review
Journal of Immunoassay and Immunochemistry·2017· 20 cited
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The American Journal of Human Genetics·2016· 91 citedOpen Access
Intellectual disability and epilepsy in down syndrome.
PubMed·2014· 26 cited
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Journal of Neurology·2013· 102 cited
P25 – 2072 Diagnostic clues and difficulties in Dravet syndrome starting from 34 Dravet patients analysis within Romanian Research Group for Rare Genetic Epilepsies
European Journal of Paediatric Neurology·2013
P291 – 2006 Preliminary data of National Romanian Registry of DMD patients
European Journal of Paediatric Neurology·2013
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Frequent Co-authors

Carmen Burloiu(21), Dana Craiu(20), Diana Bârcă(15), Ioana Minciu(15), Oana Tarta‐Arsene(14), Carmen Sandu(11), Magdalena Budișteanu(10), Cristina Moțoescu(10), Alice Dica(9), Catrinel Iliescu(8), Monica Stavarachi(7), Cristina Pomeran(7), S. Mǎgureanu(7), Dana Șurlică(6), Dănuţ Cimponeriu(6), Lucian Gavrilă(5), Mihai Toma(4), Cristina Cazacu(4), Andreea Badea(4), Daniela Adriana Ion(4)