Full Text Journal Articles by
Author Florence Renaldo


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Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder.

Elisabeth Maillart, Florence Renaldo, Caroline Papeix, Kumaran Deiva, Julie Bonheur, Teresa Kwon, Odile Boespflug-Tanguy, David Germanaud, Romain Marignier,

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2020, 7(3):]

Cited: 0 times

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Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug-Tanguy, Ilfghem Ben Youssef-Turki, Imen Dorboz,

INTRODUCTION:RNA polymerase III (Pol III)-related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B. Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified. METHODS:We report the case of a Tunisian girl of 14 years of age who was referred to ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(9):e914]

Cited: 0 times

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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Joseph P Dewulf, Elsa Wiame, Imen Dorboz, Monique Elmaleh-Bergès, Apolline Imbard, Dana Dumitriu, Malgorzata Rak, Agnès Bourillon, Raphaël Helaers, Alisha Malla, Florence Renaldo, Odile Boespflug-Tanguy, Marie-Françoise Vincent, Jean-François Benoist, Ron A Wevers, Avner Schlessinger, Emile Van Schaftingen, Marie-Cécile Nassogne, Manuel Schiff,

OBJECTIVE:SLC13A3 encodes the plasma membrane Na+ /dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as N-acetylaspartate (NAA). SLC13A3 is mainly expressed in kidney, in astrocytes, and in the choroid plexus. We describe two unrelated patients presenting with acute, reversible (and recurrent in one) ... Read more >>

Ann. Neurol. (Annals of neurology)
[2019, 85(3):385-395]

Cited: 0 times

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Gillian I Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaela Semeraro, Leo A H Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valerie Jolaine, Christine Barnerias, Magalie Barth, Alexandre Belot, Claude Cances, François-Guillaume Debray, Diane Doummar, Marie-Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie-Christine Nougues, Florence Renaldo, Mathieu P Rodero, Diana Rodriguez, Agathe Roubertie, Luis Seabra, Carolina Uggenti, Hendy Abdoul, Jean-Marc Treluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J Crow,

N. Engl. J. Med. (The New England journal of medicine)
[2018, 379(23):2275-2277]

Cited: 4 times

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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, , Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J Kastaniotis, Bruria Ben-Zeev, Susan J Hayflick,

Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2016, 99(6):1229-1244]

Cited: 13 times

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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Davide Tonduti, Simona Orcesi, Emma M Jenkinson, Imen Dorboz, Florence Renaldo, Celeste Panteghini, Gillian I Rice, Marco Henneke, John H Livingston, Monique Elmaleh, Lydie Burglen, Michèl A A P Willemsen, Luisa Chiapparini, Barbara Garavaglia, Diana Rodriguez, Odile Boespflug-Tanguy, Isabella Moroni, Yanick J Crow,

Cystic leukoencephalopathy without megalencephaly is a disorder related in some cases to RNASET2 mutations and characterized by bilateral anterior temporal subcortical cysts and multifocal lobar white matter lesions with sparing of central white matter structures. This phenotype significantly overlaps with the sequelae of in utero cytomegalovirus (CMV) infection, including the ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2016, 20(4):604-610]

Cited: 9 times

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Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Davide Tonduti, Imen Dorboz, Florence Renaldo, Julien Masliah-Planchon, Monique Elmaleh-Bergès, Hélène Dalens, Diana Rodriguez, Odile Boespflug-Tanguy,

Neurology (Neurology)
[2015, 84(21):2195-2197]

Cited: 2 times

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TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Davide Tonduti, Chiara Aiello, Florence Renaldo, Imen Dorboz, Simon Saaman, Diana Rodriguez, Houda Fettah, Monique Elmaleh, Roberta Biancheri, Sabina Barresi, Loredana Boccone, Simona Orcesi, Anna Pichiecchio, Roberta Zangaglia, Hélène Maurey, Andrea Rossi, Odile Boespflug-Tanguy, Enrico Bertini,

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first described in 2002. After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2016, 20(2):323-330]

Cited: 8 times

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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre, Mathilde Gay-Bellile, Florence Renaldo, Imen Dorboz, Cécile Pagan, Samuel Quentin, Monique Elmaleh, Christina Kotsogianni, Elissavet Konstantelou, Séverine Drunat, Anne-Claude Tabet, Odile Boespflug-Tanguy,

BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 gene is located in Xq22, PMD affects mostly boys. METHODS AND RESULTS: Here ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2015, 16:77]

Cited: 2 times

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Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Yanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, Ghada Abdel-Salam, Odile Boespflug-Tanguy, Nuno J V Cordeiro, Joseph G Gleeson, Nirmala Rani Gowrinathan, Vincent Laugel, Florence Renaldo, Diana Rodriguez, John H Livingston, Gillian I Rice,

Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined.We identified a series of patients with a phenotype of nonsyndromic spastic paraplegia in whom no diagnosis had been reached before exome sequencing. We ... Read more >>

Neuropediatrics (Neuropediatrics)
[2014, 45(6):386-393]

Cited: 20 times

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Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Jonathan Lévy, Aline Receveur, Guillaume Jedraszak, Sandra Chantot-Bastaraud, Florence Renaldo, Jean Gondry, Joris Andrieux, Henri Copin, Jean-Pierre Siffroi, Marie-France Portnoï,

Mosaicism for an autosomal structural rearrangement that does not involve ring or marker chromosomes is rare. The mechanisms responsible for genome instability have not always been explained. Several studies have shown that interstitial telomeric sequences (ITSs), involved in some mosaic constitutional anomalies, are potent sources of genomic instability. Here we ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2015, 167A(2):428-433]

Cited: 2 times

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MFN2, a new gene responsible for mitochondrial DNA depletion.

Florence Renaldo, Patrizia Amati-Bonneau, Abdelhamid Slama, Claudia Romana, Veronique Forin, Diane Doummar, Christine Barnerias, Joseph Bursztyn, Michèle Mayer, Nejib Khouri, Thierry Billette de Villemeur, Lydie Burglen, Pascal Reynier, Antoinette Bernabe Gelot, Diana Rodriguez,

Brain (Brain : a journal of neurology)
[2012, 135(Pt 8):e223, 1-4; author reply e224, 1-3]

Cited: 10 times

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The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

Alessandra Terracciano, Florence Renaldo, Ginevra Zanni, Adele D'Amico, Anna Pastore, Sabina Barresi, Enza Maria Valente, Fiorella Piemonte, Giulia Tozzi, Rosalba Carrozzo, Massimiliano Valeriani, Renata Boldrini, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertini,

Childhood cerebellar ataxias, and particularly congenital ataxias, are heterogeneous disorders and several remain undefined. We performed a muscle biopsy in patients with congenital ataxia and children with later onset undefined ataxia having neuroimaging evidence of cerebellar atrophy. Significant reduced levels of Coenzyme Q10 (COQ10) were found in the skeletal muscle ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2012, 16(3):248-256]

Cited: 15 times

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Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.

Cyril Mignot, Isabelle Desguerre, Lydie Burglen, Lucie Hertz-Pannier, Florence Renaldo, Jean-François Gadisseux, Serge Gallet, Danielle Pham-Dinh, Odile Boespflug-Tanguy, Diana Rodriguez,

We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma. A transient papilloedema appeared during the follow-up and the lesion partially regressed despite ... Read more >>

Brain Dev. (Brain & development)
[2009, 31(3):244-247]

Cited: 7 times

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Surgical outcome in tuberous sclerosis complex: a multicenter survey.

Deepak Madhavan, Sarah Schaffer, Alexei Yankovsky, Alexis Arzimanoglou, Florence Renaldo, Charles M Zaroff, Josiane LaJoie, Howard L Weiner, Eva Andermann, David N Franz, Jennifer Leonard, Mary Connolly, Greg D Cascino, Orrin Devinsky,

Multicenter, retrospective analysis of 70 subjects with TSC following surgery for relief of epilepsy revealed significant associations between younger age at seizure onset, present/prior history of infantile spasms, interictal focality (bilateral versus unilateral), and absence of residual postoperative predominant tuber, and poorer postoperative outcome (p < 0.01). Ictal multifocality, mental ... Read more >>

Epilepsia (Epilepsia)
[2007, 48(8):1625-1628]

Cited: 33 times

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