Manuel Schiff (M Schiff)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 31

Top Venues

Neurology. Genetics

Bone marrow transplantation

Journal of inherited metabolic disease

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy. Neurology 102 (11) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy. Neurology 102 (11) (2024)
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour-Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? JIMD reports 65 (3) (2024)
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour-Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? JIMD reports 65 (3) (2024)
Clément Pontoizeau, Clovis Gaborit, Nolan Tual, Marcelo Simon-Sola, Irina Rotaru, Marion Benoist, Pasqualina Colella, Antonin Lamazière, Anaïs Brassier, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Successful treatment of severe MSUD in Bckdhb -/- mice with neonatal AAV gene therapy. Journal of inherited metabolic disease (2023)
Didier Frappaz, Manuel Schiff, Virginie Penard-Lacronique, Niklas Darin, Selim-Maria Saad, Clarisse Duchon, Antonin Lamazière, Aurore Desmons, Clément Pontoizeau, Pablo Berlanga, Stéphane Ducassou, Katharine Yen, Michael Su, David Schenkein, Chris Ottolenghi, Stéphane De Botton
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation. Nature medicine (2023)
Clément Pontoizeau, Clovis Gaborit, Nolan Tual, Marcelo Simon-Sola, Irina Rotaru, Marion Benoist, Pasqualina Colella, Antonin Lamazière, Anaïs Brassier, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Successful treatment of severe MSUD in Bckdhb -/- mice with neonatal AAV gene therapy. Journal of inherited metabolic disease (2023)
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone marrow transplantation 58 (3) (2022)
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone marrow transplantation 58 (3) (2022)
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone marrow transplantation 58 (3) (2022)
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnes Rotig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice. Nature communications 13 (1) (2022)
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone marrow transplantation 58 (3) (2022)
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone marrow transplantation (2022)
Mathilde Yverneau, Stéphanie Leroux, Apolline Imbard, Florian Gleich, Alina Arion, Caroline Moreau, Marie-Cécile Nassogne, Marie Szymanowski, Marine Tardieu, Guy Touati, María Bueno, Kimberly A Chapman, Yin-Hsiu Chien, Martina Huemer, Pavel Ješina, Mirian C H Janssen, Stefan Kölker, Viktor Kožich, Christian Lavigne, Allan Meldgaard Lund, Fanny Mochel, Andrew Morris, Mónica Ruiz Pons, Gloria Liliana Porras-Hurtado, Jean-François Benoist, Léna Damaj, Manuel Schiff, null null
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency. Journal of inherited metabolic disease 45 (4) (2022)
Ludmia Taibi, Dimitri Schlemmer, Juliette Bouchereau, Claudine Causson, Samia Pichard, Emmanuelle Bourrat, Isabelle Melki, Manuel Schiff, Jean-François Benoist, Apolline Imbard
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly. Clinical chemistry (2022)
Alexandra A Ntorkou, J Daire, F Renaldo, Diane Doummar, Marianne Alison, Manuel Schiff, Monique Elmaleh-Bergès
Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1. AJNR. American journal of neuroradiology 42 (9) (2021)
Yajuan Li, Zhi Tan, Yaohua Zhang, Zhao Zhang, Qingsong Hu, Ke Liang, Yao Jun, Youqiong Ye, Yi-Chuan Li, Chunlai Li, Lan Liao, Jianming Xu, Zhen Xing, Yinghong Pan, Sujash S Chatterjee, Tina K Nguyen, Heidi Hsiao, Sergey D Egranov, Nagireddy Putluri, Cristian Coarfa, David H Hawke, Preethi H Gunaratne, Kuang-Lei Tsai, Leng Han, Mien-Chie Hung, George A Calin, Fares Namour, Jean-Louis Guéant, Ania Carolina Muntau, Nenad Blau, Vernon Reid Sutton, Manuel Schiff, François Feillet, Shuxing Zhang, Chunru Lin, Liuqing Yang
A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science (New York, N.Y.) 373 (6555) (2021)
Diego Martinelli, Manuel Schiff, Michela Semeraro, Emanuele Agolini, Antonio Novelli, Carlo Dionisi-Vici
CUGC for lysinuric protein intolerance (LPI). European journal of human genetics : EJHG 28 (8) (2020)
Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphaël Lévy, Marco Henneke, Jutta Gärtner, Pelin Teke Kisa, Fatma Ceren Sarioglu, Uluç Yiş, Laura L Konczal, Deepika D Burkardt, Sulin Wu, Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Munnich, Nathalie Boddaert, Manuel Schiff
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? Journal of medical genetics (2020)
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
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Annals of neurology 85 (3) (2019)
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening. Scientific reports 9 (1) (2019)
Bianca E Russell, Kaitlin G Whaley, Kevin E Bove, Anatalia Labilloy, Rachel C Lombardo, Robert J Hopkin, Nancy D Leslie, Carlos Prada, Zahra Assouline, Giulia Barcia, Juliette Bouchereau, Maryline Chomton, Dominique Debray, Imen Dorboz, Philippe Durand, Pauline Gaignard, Dalila Habes, Claude Jardel, François Labarthe, Jonathan Lévy, Anne Lombès, Claire Mehler-Jacob, Judith Melki, Laura Menvielle, Arnold Munnich, Charlotte Mussini, Samia Pichard, Marlène Rio, Agnès Rötig, Samira Sissaoui, Abdelhamid Slama, Alexander G Miethke, Manuel Schiff
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Hepatology (Baltimore, Md.) 70 (3) (2019)
Paule Bénit, Agathe Kahn, Dominique Chretien, Sylvie Bortoli, Laurence Huc, Manuel Schiff, Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Gressens, Malgorzata Rak, Pierre Rustin
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells. PloS one 14 (11) (2019)
Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler, Carolyn Sue, Mark Tarnopolsky, David R Thorburn, Jerry Vockley, Shamima Rahman
Diagnosis of 'possible' mitochondrial disease: an existential crisis. Journal of medical genetics 56 (3) (2019)
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Naig Gueguen, Valerie D Dumas, Pascale Marcorelles, Manuel Schiff, Abdelhamid Slama, Magalie Barth, Marie Hully, Pascale de Lonlay, Arnold Munnich, Isabelle Desguerre, Jean-Paul Bonnefont, Julie Steffann, Vincent Procaccio, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Human mutation 41 (2) (2019)
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Journal of medical genetics 54 (12) (2017)

Manuel Schiff.css-eqlu8i{font-size:small;padding-left:4px;} (M Schiff)

Publication Activity (10 Years)

Top Topics

Top Venues

Manuel Schiff (M Schiff)