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5 results on '"Elmaleh‐Bergès, Monique"'

1. Neurological outcome in WDR62 primary microcephaly.

Author

Ruaud, Lyse, Drunat, Séverine, Elmaleh-Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, MCPH Consortium, Pirson, Isabelle, El Ghouzzi, Vincent, Auvin, Stéphane, Verloes, Alain, Passemard, Sandrine, Ruaud, Lyse, Drunat, Séverine, Elmaleh-Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, MCPH Consortium, Pirson, Isabelle, El Ghouzzi, Vincent, Auvin, Stéphane, Verloes, Alain, and Passemard, Sandrine

Abstract

To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly., 0, info:eu-repo/semantics/published

Published
2022

2. Autosomal recessive primary microcephaly due to ASPM mutations: An update

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, and Passemard, Sandrine

Abstract

Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The abnormal spindle-like microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster "abnormal spindle" gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological, and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities.

Published
2018

3. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Author

UCL - (SLuc) Service de neurologie pédiatrique, Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, Schiff, Manuel, UCL - (SLuc) Service de neurologie pédiatrique, Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, and Schiff, Manuel

Abstract

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. We hypothesized that the neurological signs were related to the genetic defect and may occur independently of ketoacidotic episodes. We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment.

Published
2017

4. Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability

Author

Delahaye, André, Sznajer, Yves, Lyonnet, Stanislas, Elmaleh-Bergès, Monique, Delpierre, Isabelle, Audollent, Sophie, Wiener-Vacher, S., Mansbach, Anne-Laure, Amiel, J., Baumann, Clarisse, Bremond-Gignac, Dominique, Attié-Bitach, Tania, Verloes, Alain, Sanlaville, Damien, Delahaye, André, Sznajer, Yves, Lyonnet, Stanislas, Elmaleh-Bergès, Monique, Delpierre, Isabelle, Audollent, Sophie, Wiener-Vacher, S., Mansbach, Anne-Laure, Amiel, J., Baumann, Clarisse, Bremond-Gignac, Dominique, Attié-Bitach, Tania, Verloes, Alain, and Sanlaville, Damien

Abstract

SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

Published
2007

5. Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability

Author

Delahaye, André, Sznajer, Yves, Lyonnet, Stanislas, Elmaleh-Bergès, Monique, Delpierre, Isabelle, Audollent, Sophie, Wiener-Vacher, S., Mansbach, Anne-Laure, Amiel, J., Baumann, Clarisse, Bremond-Gignac, Dominique, Attié-Bitach, Tania, Verloes, Alain, Sanlaville, Damien, Delahaye, André, Sznajer, Yves, Lyonnet, Stanislas, Elmaleh-Bergès, Monique, Delpierre, Isabelle, Audollent, Sophie, Wiener-Vacher, S., Mansbach, Anne-Laure, Amiel, J., Baumann, Clarisse, Bremond-Gignac, Dominique, Attié-Bitach, Tania, Verloes, Alain, and Sanlaville, Damien

Abstract

SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

Published
2007

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