Pronađeno: 1-10 / 10 radova

Autori: Potic Ana D

>> Prikaži sve rezultate

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 ISI/Web of Science   Članak   Elečas   Rang časopisa  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant (Article)
Autori Potic Ana D  Pavlovic Aleksandra M  Uziel Graziella  Kozic Dusko B  Ostojic Jelena V  Rovelli Attilio M  Sternic Nadezda M  Bjelan Mladen  Sarto Elisa  Di Bella Daniela  Taroni Franco 
Info JOURNAL OF NEUROLOGY, (2013), vol. 260 br. 8, str. 2124-2129
Projekat Telethon Foundation [GGP09301]; Italian Ministry of Health [RF-2009-1539841]; Ministry of Science of the Republic of Serbia [175022]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations (Article)
Autori Potic Ana D  Brais B  Choquet K  Schiffmann Raphael  Bernard G 
Info ARCHIVES OF NEUROLOGY, (2012), vol. 69 br. 7, str. 920-923
Projekat Fonds de Recherche en Sante du Quebec; Reseau de Medecine Genetique Appliquee; La Fondation sur les Leucodystrophies; European Leukodystrophy Association
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe (Article)
Autori Potic Ana D  Rovelli Attilio M  Uziel Graziella  Kozic Dusko B  Mladenovic Jelena M  Milic-Rasic Vedrana M 
Info JOURNAL OF CHILD NEUROLOGY, (2010), vol. 25 br. 12, str. 1542-1547
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Ispis zapisa u formatu:TXT | BibTeX