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Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia.
Published in:
Movement Disorders Clinical Practice, 2023, v. 10, n. 7, p. 1082, doi. 10.1002/mdc3.13795
By:
- Ekmen, Asya;
- Doulazmi, Mohamed;
- Méneret, Aurélie;
- Jegatheesan, Prasanthi;
- Hervé, Anais;
- Damier, Philippe;
- Gras, Domitille;
- Roubertie, Agathe;
- Piard, Juliette;
- Mutez, Eugenie;
- Tarrano, Clément;
- Welniarz, Quentin;
- Vidailhet, Marie;
- Worbe, Yulia;
- Gallea, Cécile;
- Roze, Emmanuel
Publication type:
Article
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 9, p. 1, doi. 10.15252/emmm.202114712
By:
- Hwu, Paul Wuh‐Liang;
- Kiening, Karl;
- Anselm, Irina;
- Compton, David R;
- Nakajima, Takeshi;
- Opladen, Thomas;
- Pearl, Phillip L;
- Roubertie, Agathe;
- Roujeau, Thomas;
- Muramatsu, Shin‐ichi
Publication type:
Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-80
By:
- Milh, Mathieu;
- Boutry-Kryza, Nadia;
- Sutera-Sardo, Julie;
- Mignot, Cyril;
- Auvin, Stéphane;
- Lacoste, Caroline;
- Villeneuve, Nathalie;
- Roubertie, Agathe;
- Heron, Bénédicte;
- Carneiro, Maryline;
- Kaminska, Anna;
- Altuzarra, Cécilia;
- Blanchard, Gaëlle;
- Ville, Dorothée;
- Barthez, Marie Anne;
- Heron, Delphine;
- Gras, Domitille;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Doummar, Dianne
Publication type:
Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Published in:
2013
By:
- Milh, Mathieu;
- Boutry-Kryza, Nadia;
- Sutera-Sardo, Julie;
- Mignot, Cyril;
- Auvin, Stéphane;
- Lacoste, Caroline;
- Villeneuve, Nathalie;
- Roubertie, Agathe;
- Heron, Bénédicte;
- Carneiro, Maryline;
- Kaminska, Anna;
- Altuzarra, Cécilia;
- Blanchard, Gaëlle;
- Ville, Dorothée;
- Barthez, Marie Anne;
- Heron, Delphine;
- Gras, Domitille;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Doummar, Dianne
Publication type:
journal article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Published in:
2021
By:
- Verdura, Edgard;
- Rodríguez-Palmero, Agustí;
- Vélez-Santamaria, Valentina;
- Planas-Serra, Laura;
- de la Calle, Irene;
- Raspall-Chaure, Miquel;
- Roubertie, Agathe;
- Benkirane, Mehdi;
- Saettini, Francesco;
- Pavinato, Lisa;
- Mandrile, Giorgia;
- O'Leary, Melanie;
- O'Heir, Emily;
- Barredo, Estibaliz;
- Chacón, Almudena;
- Michaud, Vincent;
- Goizet, Cyril;
- Ruiz, Montserrat;
- Schlüter, Agatha;
- Rouvet, Isabelle
Publication type:
journal article
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Published in:
2019
By:
- Kuchenbuch, Mathieu;
- Barcia, Giulia;
- Chemaly, Nicole;
- Carme, Emilie;
- Roubertie, Agathe;
- Gibaud, Marc;
- Bogaert, Patrick Van;
- Martin, Anne de Saint;
- Hirsch, Edouard;
- Dubois, Fanny;
- Sarret, Catherine;
- Tich, Sylvie Nguyen The;
- Laroche, Cecile;
- Portes, Vincent des;
- Villemeur, Thierry Billette de;
- Barthez, Marie-Anne;
- Auvin, Stéphane;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Kaminska, Anna
Publication type:
journal article
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 12, p. 1931, doi. 10.1111/epi.13214
By:
- Di Meglio, Chloé;
- Lesca, Gaetan;
- Villeneuve, Nathalie;
- Lacoste, Caroline;
- Abidi, Affef;
- Cacciagli, Pierre;
- Altuzarra, Cécilia;
- Roubertie, Agathe;
- Afenjar, Alexandra;
- Renaldo‐Robin, Florence;
- Isidor, Bertrand;
- Gautier, Agnes;
- Husson, Marie;
- Cances, Claude;
- Metreau, Julia;
- Laroche, Cécile;
- Chouchane, Mondher;
- Ville, Dorothée;
- Marignier, Stéphanie;
- Rougeot, Christelle
Publication type:
Article
Antiglial Cell Autoantibodies and Childhood Epilepsy: A Case Report.
Published in:
Epilepsia (Series 4), 2005, v. 46, n. 8, p. 1308, doi. 10.1111/j.1528-1167.2005.53004.x
By:
- Roubertie, Agathe;
- Boukhaddaoui, Hassan;
- Sieso, Victor;
- de Saint-Martin, Anne;
- Lellouch-Tubiana, Arielle;
- Hirsch, Edouard;
- Echenne, Bernard;
- Valmier, Jean
Publication type:
Article
Founder Effect in Patients with Unverricht-Lundborg Disease on Reunion Island.
Published in:
Epilepsia (Series 4), 2003, v. 44, n. 10, p. 1357, doi. 10.1046/j.1528-1157.2003.03703.x
By:
- Moulard, Buno;
- Darcel, Fancoise;
- Mignard, Didier;
- Jeanpierre, Marc;
- Genton, Pierre;
- Cartault, Fançois;
- Yaouanq, Jacqueline;
- Roubertie, Agathe;
- Biraben, Anaud;
- Buresi, Catherjne;
- Malafosse, Alajn
Publication type:
Article
Interictal Paroxysmal Epileptic Discharges during Sleep in Childhood: Phenotypic Variability in a Family.
Published in:
Epilepsia (Series 4), 2003, v. 44, n. 6, p. 864, doi. 10.1046/j.1528-1157.2003.41002.x
By:
- Roubertie, Agathe;
- Humbertclaude, Véronique;
- Rivier, François;
- Cheminal, Renée;
- Echenne, Bernard
Publication type:
Article
Perfusion-weighted MR imaging in persistent hemiplegic migraine.
Published in:
Neuroradiology, 2012, v. 54, n. 3, p. 255, doi. 10.1007/s00234-011-0946-z
By:
- Mourand, Isabelle;
- Menjot de Champfleur, Nicolas;
- Carra-Dallière, Clarisse;
- Bars, Emmanuelle;
- Roubertie, Agathe;
- Bonafé, Alain;
- Thouvenot, Eric
Publication type:
Article
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2163, doi. 10.3390/jcm8122163
By:
- Danielsson, Annika;
- Carecchio, Miryam;
- Cif, Laura;
- Koy, Anne;
- Lin, Jean-Pierre;
- Solders, Göran;
- Romito, Luigi;
- Lohmann, Katja;
- Garavaglia, Barbara;
- Reale, Chiara;
- Zorzi, Giovanna;
- Nardocci, Nardo;
- Coubes, Philippe;
- Gonzalez, Victoria;
- Roubertie, Agathe;
- Collod-Beroud, Gwenaelle;
- Lind, Göran;
- Tedroff, Kristina
Publication type:
Article
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1096, doi. 10.3390/jcm8081096
By:
- Bax, Bridget E.;
- Levene, Michelle;
- Bain, Murray D.;
- Fairbanks, Lynette D.;
- Filosto, Massimiliano;
- Kalkan Uçar, Sema;
- Klopstock, Thomas;
- Kornblum, Cornelia;
- Mandel, Hanna;
- Rahman, Shamima;
- Roubertie, Agathe;
- Scarpelli, Mauro;
- Sedgwick, Philip M.;
- Baru, Moshe;
- Sellos-Moura, Marcia;
- Price, Jeanie;
- Horn, Patrick;
- Nirmalananthan, Niranjanan
Publication type:
Article
Benign paroxysmal vertigo of childhood: Long-term outcome.
Published in:
Cephalalgia, 2011, v. 31, n. 4, p. 439, doi. 10.1177/0333102410382797
By:
- Krams, Benjamin;
- Echenne, Bernard;
- Leydet, Julie;
- Rivier, François;
- Roubertie, Agathe
Publication type:
Article
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1403815
By:
- Domínguez Carral, Jana;
- Reinhard, Carola;
- Ebrahimi-Fakhari, Darius;
- Dorison, Nathalie;
- Galosi, Serena;
- Garone, Giacomo;
- Malenica, Masa;
- Ravelli, Claudia;
- Serdaroglu, Esra;
- van de Pol, Laura A.;
- Koy, Anne;
- Leuzzi, Vincenzo;
- Roubertie, Agathe;
- Lin, Jean-Pierre;
- Doummar, Diane;
- Cif, Laura;
- Ortigoza-Escobar, Juan Darío
Publication type:
Article
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2366, doi. 10.1002/ajmg.a.37188
By:
- Charif, Majida;
- Titah, Salah Mohamed Cherif;
- Roubertie, Agathe;
- Desquiret‐Dumas, Valérie;
- Gueguen, Naig;
- Meunier, Isabelle;
- Leid, Jean;
- Massal, Frédéric;
- Zanlonghi, Xavier;
- Mercier, Jacques;
- Raynaud de Mauverger, Eric;
- Procaccio, Vincent;
- de Camaret, Bénédicte Mousson;
- Lenaers, Guy;
- Hamel, Christian P.
Publication type:
Article
Epilepsie réfractaire et hyperlactacidémie chez un nourrisson : la maladie de Menkès, un diagnostic à envisager. A propos d'un cas.
Published in:
Annales de Biologie Clinique, 2020, v. 78, n. 4, p. 441, doi. 10.1684/abc.2020.1566
By:
- Mondesert, Etienne;
- Roubertie, Agathe;
- Girard, Mathilde;
- Leboucq, Nicolas;
- Baud, Catherine;
- Cuntz, Danielle;
- Cristol, Jean-Paul;
- Rivier, François;
- Cambonie, Gilles;
- Leydet, Julie;
- Badiou, Stéphanie
Publication type:
Article
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Published in:
2018
By:
- Humbertclaude, Véronique;
- Krams, Benjamin;
- Nogue, Erika;
- Nagot, Nicolas;
- Annequin, Daniel;
- Tourniaire, Barbara;
- Tournier‐Lasserve, Elisabeth;
- Riant, Florence;
- Roubertie, Agathe;
- Echenne, Bernard;
- Nguyen, Marie‐Ange;
- Doummar, Diane;
- Milh, Mathieu;
- Napuri, Silvia;
- Lion‐François, Laurence;
- Tardieu, Marc;
- Cheuret, Emmanuel;
- Spitz, Marie‐Aude;
- Saint Martin, Anne;
- Dubois, Fanny
Publication type:
journal article
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
Published in:
Journal of Neurology, 2008, v. 255, n. 10, p. 1600, doi. 10.1007/s00415-008-0982-8
By:
- Roubertie, Agathe;
- Echenne, Bernard;
- Leydet, Julie;
- Soete, Sophie;
- Krams, Benjamin;
- Rivier, François;
- Riant, Florence;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Published in:
Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00311
By:
- Charif, Majida;
- Roubertie, Agathe;
- Salime, Sara;
- Mamouni, Sonia;
- Goizet, Cyril;
- Hamel, Christian P.;
- Lenaers, Guy;
- Brusco, Alfredo;
- Tranebjærg, Lisbeth
Publication type:
Article
Fatal accidental lipid overdose with intravenous composite lipid emulsion in a premature newborn: a case report.
Published in:
2021
By:
- Badr, Maliha;
- Goulard, Marion;
- Theret, Bénédicte;
- Roubertie, Agathe;
- Badiou, Stéphanie;
- Pifre, Roselyne;
- Bres, Virginie;
- Cambonie, Gilles
Publication type:
journal article
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Published in:
Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.803
By:
- Piarroux, Julie;
- Dimopoulou, Evgenia;
- Taieb, Guillaume;
- Souvannanorath, Sarah;
- Roze, Emmanuel;
- Lion-François, Laurence;
- Spitz, Marie-Aude;
- Broussolle, Emmanuel;
- Laurencin, Chloé;
- Chanson, Jean-Baptiste;
- Belleville-Goffeney, Johanna;
- François-Heude, Marie Céline;
- Meyer, Pierre;
- Khalil, Mirna;
- Dereure, Maelle;
- Doummar, Diane;
- Chevassus, Hugues;
- Apartis, Emmanuelle;
- Roubertie, Agathe
Publication type:
Article
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 1, p. 20, doi. 10.1111/epi.14605
By:
- Kuchenbuch, Mathieu;
- Milh, Matthieu;
- Villeneuve, Nathalie;
- Chemaly, Nicole;
- Nabbout, Rima;
- Kaminska, Anna;
- Barcia, Giulia;
- Benquet, Pascal;
- Modolo, Julien;
- Wendling, Fabrice;
- Roubertie, Agathe;
- Carme, Emilie;
- Saint Martin, Anne;
- Hirsch, Edouard;
- Dubois, Fanny;
- Laroche, Cécile;
- Sauleau, Paul
Publication type:
Article
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 6, p. 956, doi. 10.1111/epi.13387
By:
- Lagarde, Stanislas;
- Villeneuve, Nathalie;
- Trébuchon, Agnès;
- Kaphan, Elsa;
- Lepine, Anne;
- McGonigal, Aileen;
- Roubertie, Agathe;
- Barthez, Marie‐Anne J.;
- Trommsdorff, Valérie;
- Lefranc, Jérémie;
- Wehbi, Samer;
- Portes, Vincent;
- Laguitton, Virginie;
- Quartier, Pierre;
- Scavarda, Didier;
- Giusiano, Bernard;
- Milh, Mathieu;
- Bulteau, Christine;
- Bartolomei, Fabrice
Publication type:
Article
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 5, p. e87, doi. 10.1111/epi.13366
By:
- Devaux, Jérôme;
- Abidi, Affef;
- Roubertie, Agathe;
- Molinari, Florence;
- Becq, Hélène;
- Lacoste, Caroline;
- Villard, Laurent;
- Milh, Mathieu;
- Aniksztejn, Laurent
Publication type:
Article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Published in:
2020
By:
- Piro-Mégy, Camille;
- Sarzi, Emmanuelle;
- Tarrés-Solé, Aleix;
- Péquignot, Marie;
- Hensen, Fenna;
- Quilès, Mélanie;
- Manes, Gaël;
- Chakraborty, Arka;
- Sénéchal, Audrey;
- Bocquet, Béatrice;
- Cazevieille, Chantal;
- Roubertie, Agathe;
- Müller, Agnès;
- Charif, Majida;
- Goudenège, David;
- Lenaers, Guy;
- Wilhelm, Helmut;
- Kellner, Ulrich;
- Weisschuh, Nicole;
- Wissinger, Bernd
Publication type:
journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Published in:
Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 143, doi. 10.1172/JCI128513
By:
- Piro-Mégy, Camille;
- Sarzi, Emmanuelle;
- Tarrés-Solé, Aleix;
- Péquignot, Marie;
- Hensen, Fenna;
- Quilès, Mélanie;
- Manes, Gaël;
- Chakraborty, Arka;
- Sénéchal, Audrey;
- Bocquet, Béatrice;
- Cazevieille, Chantal;
- Roubertie, Agathe;
- Müller, Agnès;
- Charif, Majida;
- Goudenège, David;
- Lenaers, Guy;
- Wilhelm, Helmut;
- Kellner, Ulrich;
- Weisschuh, Nicole;
- Wissinger, Bernd
Publication type:
Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Published in:
2023
By:
- Baide‐Mairena, Heidy;
- Coget, Arthur;
- Leboucq, Nicolas;
- Procaccio, Vincent;
- Blanluet, Maud;
- Meyer, Pierre;
- Malinge, Marie‐Claire;
- François‐Heude, Marie‐Céline;
- Moreno, Mathis;
- Geneviève, David;
- Marelli, Cecilia;
- Roubertie, Agathe
Publication type:
Case Study
Pregnancy in MNGIE: a clinical and metabolic honeymoon.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2484, doi. 10.1002/acn3.51202
By:
- Pappalardo, Pauline;
- Benoist, Jean‐François;
- Bax, Bridget E.;
- Carra‐Dallière, Clarisse;
- Marelli, Cecilia;
- Levene, Michele;
- Begue, Laetitia;
- Rolland, Anne;
- Flori, Nicolas;
- Rivier, François;
- Blanchet, Catherine;
- Munnich, Arnold;
- Altwegg, Romain;
- Meyer, Pierre;
- Roubertie, Agathe
Publication type:
Article
FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 565, doi. 10.1002/acn3.51005
By:
- Piarroux, Julie;
- Riant, Florence;
- Humbertclaude, Véronique;
- Remerand, Ganaelle;
- Hadjadj, Jessica;
- Rejou, Franck;
- Coubes, Christine;
- Pinson, Lucile;
- Meyer, Pierre;
- Roubertie, Agathe
Publication type:
Article
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1572, doi. 10.1002/acn3.50860
By:
- Roubertie, Agathe;
- Charif, Majida;
- Meyer, Pierre;
- Manes, Gael;
- Meunier, Isabelle;
- Taieb, Guillaume;
- Junta Morales, Raul;
- Guichet, Agnès;
- Delettre, Cecile;
- Sarzi, Emmanuelle;
- Leboucq, Nicolas;
- Rivier, François;
- Lenaers, Guy
Publication type:
Article
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Published in:
2021
By:
- Mengel, Eugen;
- Bembi, Bruno;
- del Toro, Mireia;
- Deodato, Federica;
- Gautschi, Matthias;
- Grunewald, Stephanie;
- Grønborg, Sabine;
- Héron, Bénédicte;
- Maier, Esther M.;
- Roubertie, Agathe;
- Santra, Saikat;
- Tylki-Szymanska, Anna;
- Day, Simon;
- Symonds, Tara;
- Hudgens, Stacie;
- Patterson, Marc C.;
- Guldberg, Christina;
- Ingemann, Linda;
- Petersen, Nikolaj H. T.;
- Kirkegaard, Thomas
Publication type:
corrected article
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Published in:
2020
By:
- Mengel, Eugen;
- Bembi, Bruno;
- del Toro, Mireia;
- Deodato, Federica;
- Gautschi, Matthias;
- Grunewald, Stephanie;
- Grønborg, Sabine;
- Héron, Bénédicte;
- Maier, Esther M.;
- Roubertie, Agathe;
- Santra, Saikat;
- Tylki-Szymanska, Anna;
- Day, Simon;
- Symonds, Tara;
- Hudgens, Stacie;
- Patterson, Marc C.;
- Guldberg, Christina;
- Ingemann, Linda;
- Petersen, Nikolaj H. T.;
- Kirkegaard, Thomas
Publication type:
journal article
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.
Published in:
Developmental Medicine & Child Neurology, 2024, v. 66, n. 8, p. 1053, doi. 10.1111/dmcn.15859
By:
- Colmard, Maxime;
- Rivier, François;
- de Barry, Gaëlle;
- Roubertie, Agathe;
- Urtiaga‐Valle, Sarai;
- Mercedes‐Alvarez, Blanca;
- Combes, Clementine;
- Cambonie, Gilles;
- Milesi, Christophe;
- Meyer, Pierre
Publication type:
Article
Cognitive impairment in children with CACNA1A mutations.
Published in:
2020
By:
- Humbertclaude, Veronique;
- Riant, Florence;
- Krams, Benjamin;
- Zimmermann, Valerie;
- Nagot, Nicolas;
- Annequin, Daniel;
- Echenne, Bernard;
- Tournier‐Lasserve, Elisabeth;
- Roubertie, Agathe;
- Bonnemains, Chrystelle;
- Chabrier, Stéphane;
- Cheuret, Emmanuel;
- Doummar, Diane;
- Dubois, Fanny;
- Kossorotoff, Manoelle;
- Leboucq, Nicolas;
- Leydet, Julie;
- Lion‐François, Laurence;
- Meyer, Pierre;
- Milh, Mathieu
Publication type:
journal article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
By:
- Roubertie, Agathe;
- Opladen, Thomas;
- Brennenstuhl, Heiko;
- Kuseyri Hübschmann, Oya;
- Flint, Lisa;
- Willemsen, Michel A.;
- Leuzzi, Vincenzo;
- Cazorla, Angels Garcia;
- Kurian, Manju A.;
- François‐Heude, Marie Céline;
- Hwu, Paul;
- Zeev, Bruria Ben;
- Kiening, Karl;
- Roujeau, Thomas;
- Pons, Roser;
- Pearson, Toni S.
Publication type:
Article
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 972, doi. 10.1002/jimd.12646
By:
- Laur, Domitille;
- Pichard, Samia;
- Bekri, Soumeya;
- Caillaud, Catherine;
- Froissart, Roseline;
- Levade, Thierry;
- Roubertie, Agathe;
- Desguerre, Isabelle;
- Héron, Bénédicte;
- Auvin, Stéphane
Publication type:
Article
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 215, doi. 10.1002/jimd.12452
By:
- Gorce, Magali;
- Lebigot, Elise;
- Arion, Alina;
- Brassier, Anaïs;
- Cano, Aline;
- De Lonlay, Pascale;
- Feillet, François;
- Gay, Claire;
- Labarthe, François;
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- Roubertie, Agathe;
- Sacaze, Elise;
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Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.
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Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
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- Harmatz, Paul;
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- Day, Simon;
- Andreasen, Anne Katrine;
- Geist, Marie Aavang;
- Havnsøe Torp Petersen, Nikolaj;
- Ingemann, Linda;
- Hansen, Thomas
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Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
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Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1199, doi. 10.1002/jimd.12403
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- Odent, Sylvie;
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- Mesli, Samir;
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- Charriere, Sybill;
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- Lavigne, Christian;
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- Besson, Gérard;
- Bigot, Adrien;
- Servettaz, Amélie
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Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
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Human Molecular Genetics, 2015, v. 24, n. 14, p. 3948, doi. 10.1093/hmg/ddv133
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- de Camaret, Benedicte Mousson;
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Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
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European Journal of Neurology, 2022, v. 29, n. 11, p. 3229, doi. 10.1111/ene.15515
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Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.
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Movement Disorders, 2023, v. 38, n. 9, p. 1759, doi. 10.1002/mds.29561
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Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
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Movement Disorders, 2023, v. 38, n. 5, p. 906, doi. 10.1002/mds.29357
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Congenital Club Foot With Survival of Motor Neuron 1, Telomeric (SMN1) Gene Deletion.
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Journal of Child Neurology, 2004, v. 19, n. 3, p. 212
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Is Hyperprolinemia Type I Actually a Benign Trait? Report of a Case With Severe Neurologic...
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Journal of Child Neurology, 2001, v. 16, n. 8, p. 622, doi. 10.1177/088307380101600820
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Postnatal outcome of children with antenatal colonic hyperechogenicity.
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Prenatal Diagnosis, 2024, v. 44, n. 1, p. 28, doi. 10.1002/pd.6475
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- Wells, Constance F.;
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- Benoist, Jean‐François;
- Dreux, Sophie;
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- Willems, Marjolaine
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Functional classification of ATM variants in ataxia‐telangiectasia patients.
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Human Mutation, 2019, v. 40, n. 10, p. 1713, doi. 10.1002/humu.23778
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- Sophie, Julia;
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- Anheim, Mathieu;
- Castrioto, Anna;
- Flabeau, Olivier;
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- Ewenczyk, Claire;
- Mahlaoui, Nizar;
- Touzot, Fabien;
- Suarez, Felipe;
- Hully, Marie;
- Roubertie, Agathe;
- Aladjidi, Nathalie;
- Tison, François;
- Antoine‐Poirel, Hélène
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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
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Human Mutation, 2017, v. 38, n. 5, p. 524, doi. 10.1002/humu.23181
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- Kanhai, Warsha A;
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- Barić, Ivo;
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- Kayserili, Hulya;
- Roubertie, Agathe;
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- Williams, Monique;
- Salomons, Gajja S
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DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene.
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Human Mutation, 2011, v. 32, n. 11, p. 1213, doi. 10.1002/humu.21564
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- Claustres, Mireille;
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Publication type:
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