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Naslov Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature (Review)
Autori Potic Ana D Perrier Stefanie Radovic Tijana  Gavrilovic Svetlana Ostojic Jelena V  Tran Luan T Thiffault Isabelle Pastinen Tomi Schiffmann Raphael Bernard Genevieve 
Info ORPHANET JOURNAL OF RARE DISEASES, (2023), vol. 18 br. 1, str. -
Ispravka Web of Science   Članak   Elečas   Rang časopisa  
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Naslov Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C (Article)
Autori Pelletier Felixe ... Potic Ana D ... Pekic Sandra R  ... Popovic Vera P ... (broj koautora 119) 
Info JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, (2021), vol. 106 br. 2, str. E660-E674
Projekat Canadian Institutes of Health Research [201610PJT-377869, MOP-G2-341146-159133-BRIDG]; Fondation Les Amis d'Elliot; Leuco-Action; Fondation Lueur d'Espoir pour Ayden; Fondation le Tout pour Loo; Reseau de Medecine Genetique Appliquee of the Fonds de Recherche du Quebec-Sante; Compute Canada; Fonds de Recherche du Quebec en Sante (FRQS) Doctoral Scholarship; Fondation du Grand defi Pierre Lavoie Doctoral Scholarship; McGill Faculty of Medicine F. S.B. Miller Fellowship; Research Institute of the McGill University Health Centre Desjardins Studentship in Child Health Research; Directorate of Higher Education Overseas Scholarship-Dikti Scholarship, Ministry of National Education, Republic of Indonesia; CIHR [201603PJT-148695]; BC Children's Hospital Foundation through its intramural Investigator Grant Award Program (IGAP); National Institute for Neurological Disorders and Stroke [R01NS082094]; Jakob Kamens Chair in Translational Neurotherapeutics; Fonds de Recherche du Quebec-Sante (FRQS); Canadian Institutes of Health Research; European Reference Network for Rare Neurological Disorders (ERN-RND) [739510]
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C (Article)
Autori Pelletier Felixe ... Potic Ana D ... Pekic Sandra R  ... Popovic Vera P ... (broj koautora 119) 
Info JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, (2021), vol. 106 br. 2, str. E660-E674
Projekat Canadian Institutes of Health Research (CIHR) [201610PJT-377869, MOP-G2-341146-159133-BRIDG]; Fondation Les Amis d'Elliot; Leuco-Action; Fondation Lueur d'Espoir pour Ayden; Fondation le Tout pour Loo; Reseau de Medec
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study (Article)
Autori Balestrini Simona ... Brankovic Vesna ... Potic Ana D ... (broj koautora 54) 
Info NEUROLOGY, (2020), vol. 95 br. 21, str. E2866-E2879
Projekat Epilepsy Society, UK; National Institute for Health Research Biomedical Research Centres funding scheme; Muir Maxwell Trust; National Institute of Neurological Disorders and Stroke [R01NS058949]; National Institute for Health Research Biomedical Centre at Great Ormond Street Hospital for Children NHS Foundation Trust; University College London; DFG-Grant [TR-128]; Duke Institute of Brain Sciences, Duke Research and discretionary funds; National Health and Medical Research Council of Australia; National Heart, Lung, and Blood Institute grant [F30 HL131217]; British Heart Foundation [RG/15/15/31742]; AHC UK; Max's Foundation (via the Great Ormond Street Hospital Children's Charity); MRC [MR/T024062/1] Funding Source: UKRI
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov Cardiac Phenotype In ATP1A3 Related-Syndromes: A Multicentre Study (Meeting Abstract)
Autori Balestrini Simona ... Brankovic Vesna ... Potic Ana D ... (broj koautora 49) 
Info EPILEPSIA, (2019), vol. 60 br. , Suppl. 2, str. 173-173
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene (Article)
Autori Zanolini Alice Potic Ana D Carrara Franco Lamantea Eleonora Diodato Daria Blasevich Flavia Marchet Silvia Marina Mora Pallotti Francesco Morandi Lucia Zeviani Massimo Lamperti Costanza 
Info MOLECULAR GENETICS AND METABOLISM REPORTS, (2017), vol. 10 br. , str. 24-27
Projekat Fondazione Pierfranco e Luisa Mariani [CM23]; Italian Association of Mitochondrial Disease Patients and Families (Mitocon ONLUS); Cell line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases of Telethon Network of Genetics BiobanksFonda
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov From chronic recurrent headache to leukodystrophies (Meeting Abstract)
Autori Potic Ana D Di Bella Daniela Salsano E Taroni Franco 
Info EUROPEAN JOURNAL OF NEUROLOGY, (2017), vol. 24 br. , Suppl. 1, str. 373-373
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov Phenotypic variability in 4H leukodystrophy caused by POLR3A mutations (Meeting Abstract)
Autori Potic Ana D Pekic Sandra R  
Info EUROPEAN JOURNAL OF NEUROLOGY, (2016), vol. 23 br. , Suppl. 2, str. 148-148
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation (Article)
Autori Potic Ana D Nmezi Bruce Padiath Quasar S 
Info JOURNAL OF THE NEUROLOGICAL SCIENCES, (2015), vol. 358 br. 1-2, str. 453-456
Projekat University of Pittsburgh
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy (Article)
Autori Potic Ana D Popovic Vera P Ostojic Jelena V  Pekic Sandra R  Kozic Dusko B Guerrero Kether Schiffmann Raphael Bernard Genevieve 
Info BMC NEUROLOGY, (2015), vol. 15 br. , str. -
Projekat Ministry of Science of Republic of Serbia [175033]; Ministry of Science of the Republic of Serbia [175022]; Provincial Secretariat of Science and Technological Development of Province of Vojvodina, Serbia-Scientific Project [114-451-2255/2011]; Fonds de R
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science  
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