Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Agathe Roubert"'
Autor:
Paul Wuh‐Liang Hwu, Karl Kiening, Irina Anselm, David R Compton, Takeshi Nakajima, Thomas Opladen, Phillip L Pearl, Agathe Roubertie, Thomas Roujeau, Shin‐ichi Muramatsu
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 9, Pp 1-5 (2021)
Abstract This commentary provides an overview of the putamen as an established target site for gene therapy in treating aromatic l‐amino acid decarboxylase (AADC) deficiency and Parkinson’s disease, two debilitating neurological disorders that in
Externí odkaz:
https://doaj.org/article/fb674fddecf64782b2382b315e8a5d34
Autor:
Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 53-59 (2024)
Abstract Background Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase (DDC) gene, resulting in a combined deficiency of monoamine neurotransmitters
Externí odkaz:
https://doaj.org/article/deca6b443a2e40fb99fb7e172d08a585
Autor:
Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Diane Doummar, Laura Cif, Juan Darío Ortigoza-Escobar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary move
Externí odkaz:
https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6
Autor:
Heidy Baide‐Mairena, Arthur Coget, Nicolas Leboucq, Vincent Procaccio, Maud Blanluet, Pierre Meyer, Marie‐Claire Malinge, Marie‐Céline François‐Heude, Mathis Moreno, David Geneviève, Cecilia Marelli, Agathe Roubertie
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1937-1943 (2023)
Abstract We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcephaly, failure to thrive. He progressively develope
Externí odkaz:
https://doaj.org/article/4e20df8f96174de3b4d0e0ea2e34f8b3
Autor:
Zhenhua Liu, Kelly J. Gregory, Richard J. Wood, Anna C. Pfalzer, Sallie S. Schneider, Agathe Roubert, Jinchao Li, Yuyang Li
Publikováno v:
Oncotarget
Epidemiological studies have convincingly suggested that obesity is an important risk factor for postmenopausal breast cancer, but the mechanisms responsible for this relationship are still not fully understood. We hypothesize that obesity creates a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb7c1d447d3845a16b68c38b2ff28c3
http://europepmc.org/articles/PMC5482643
http://europepmc.org/articles/PMC5482643
Autor:
Lin Lyu, Anna C. Pfalzer, Zhenhua Liu, Sallie S. Schneider, Agathe Roubert, Kelly J. Gauger, Woojung Choi
Publikováno v:
The FASEB Journal. 29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62edbab83d402e968d33e5ca9b85c8d8
https://doi.org/10.1096/fasebj.29.1_supplement.405.6
https://doi.org/10.1096/fasebj.29.1_supplement.405.6
Autor:
Maliha Badr, Marion Goulard, Bénédicte Theret, Agathe Roubertie, Stéphanie Badiou, Roselyne Pifre, Virginie Bres, Gilles Cambonie
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-10 (2021)
Abstract Background Tenfold or more overdose of a drug or preparation is a dreadful adverse event in neonatology, often due to an error in programming the infusion pump flow rate. Lipid overdose is exceptional in this context and has never been repor
Externí odkaz:
https://doaj.org/article/4dcc8859e22249e9a962f78d09cc9c3e
Autor:
Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 565-572 (2020)
Abstract We report four patients from two families who presented attacks of childhood‐onset episodic ataxia associated with pathogenic mutations in the FGF14 gene. Attacks were triggered by fever, lasted several days, and had variable frequencies.
Externí odkaz:
https://doaj.org/article/b9e77851a8ca460bbbe9cd585caa65e1
Autor:
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/3525e157591141978b324498de1df8af
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c