Marie T Vanier

Affiliations

Inserm U820, Laboratoire Gillet-Mérieux, Hospices Civils de Lyon, Lyon, France.

Publications (10)

A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.

The Journal of pediatrics

Avec: Antoine Gardin , Charlotte Mussini , Bénédicte Héron , Manuel Schiff , Anaïs Brassier , Dries Dobbelaere , Pierre Broué , Caroline Sevin , Dalila Habes , Emmanuel Jacquemin , Emmanuel Gonzales

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.

Orphanet journal of rare diseases

Avec: Marc C Patterson , Eugen Mengel , Patrick Moneuse , Daniel Rosenberg , Mercedes Pineda

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Orphanet journal of rare diseases

Avec: Wladimir Mauhin , Nathalie Guffon , Roseline Froissart , Aline Cano , Claire Douillard , Christian Lavigne , Bénédicte Héron , Nadia Belmatoug , Yurdagül Uzunhan , Didier Lacombe , Thierry Levade , Aymeric Duvivier , Ruth Pulikottil-Jacob , Fernando Laredo , Samia Pichard , Olivier Lidove , Auteur inconnu

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Orphanet journal of rare diseases

Avec: Dita Musalkova , Filip Majer , Ladislav Kuchar , Ondrej Luksan , Befekadu Asfaw , Hana Vlaskova , Gabriela Storkanova , Martin Reboun , Helena Poupetova , Helena Jahnova , Helena Hulkova , Jana Ledvinova , Lenka Dvorakova , Jakub Sikora , Milan Jirsa , Martin Hrebicek

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Orphanet journal of rare diseases

Avec: Cécile Freihuber , Bahia Dahmani-Rabehi , Anaïs Brassier , Pierre Broué , Claude Cances , Brigitte Chabrol , Didier Eyer , François Labarthe , Philippe Latour , Thierry Levade , Samia Pichard , Caroline Sevin , Bénédicte Héron

Prevalence of Cancer in Acid Sphingomyelinase Deficiency.

Journal of clinical medicine

Avec: Wladimir Mauhin , Thierry Levade , Roseline Froissart , Olivier Lidove

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.

Orphanet journal of rare diseases

Avec: Margaret M McGovern , Melissa P Wasserstein , Bruno Bembi , Roberto Giugliani , K Eugen Mengel , Qi Zhang , M Judith Peterschmitt

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.

Journal of inherited metabolic disease

Avec: Marc C Patterson , William S Garver , Robert Giugliani , Jackie Imrie , Helena Jahnova , F John Meaney , Yann Nadjar , Patrick Moneuse , Olivier Morand , Daniel Rosenberg , Barbara Schwierin , Benedicte Héron

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).

Orphanet journal of rare diseases

Avec: Shaun C Bolton , Vina Soran , Mercedes Pineda Marfa , Jackie Imrie , Paul Gissen , Helena Jahnova , Reena Sharma , Simon Jones , Saikat Santra , Ellen Crushell , Miriam Stampfer , Maria Jose Coll , Charlotte Dawson , Toni Mathieson , James Green , Andrea Dardis , Bruno Bembi , Marc C Patterson , Tarekegn Geberhiwot

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

Orphanet journal of rare diseases

Avec: Tarekegn Geberhiwot , Melissa Wasserstein , Subadra Wanninayake , Shaun Christopher Bolton , Andrea Dardis , Anna Lehman , Olivier Lidove , Charlotte Dawson , Roberto Giugliani , Jackie Imrie , Justin Hopkin , James Green , Daniel de Vicente Corbeira , Shyam Madathil , Eugen Mengel , Fatih Ezgü , Magali Pettazzoni , Barbara Sjouke , Carla Hollak , Margaret McGovern , Edward Schuchman

Réseau de co-auteurs

Bénédicte Héron 3 collaborations

Marc C Patterson 3 collaborations

Thierry Levade 3 collaborations

Olivier Lidove 3 collaborations

Helena Jahnova 3 collaborations

Jackie Imrie 3 collaborations

Anaïs Brassier 2 collaborations

Pierre Broué 2 collaborations

Caroline Sevin 2 collaborations

Eugen Mengel 2 collaborations

Patrick Moneuse 2 collaborations

Daniel Rosenberg 2 collaborations

Wladimir Mauhin 2 collaborations

Roseline Froissart 2 collaborations

Samia Pichard 2 collaborations

Bruno Bembi 2 collaborations

Roberto Giugliani 2 collaborations

Charlotte Dawson 2 collaborations

James Green 2 collaborations

Andrea Dardis 2 collaborations

Tarekegn Geberhiwot 2 collaborations

Antoine Gardin 1 collaboration

Charlotte Mussini 1 collaboration

Manuel Schiff 1 collaboration

Dries Dobbelaere 1 collaboration

Dalila Habes 1 collaboration

Emmanuel Jacquemin 1 collaboration

Emmanuel Gonzales 1 collaboration

Mercedes Pineda 1 collaboration

Nathalie Guffon 1 collaboration

Aline Cano 1 collaboration

Claire Douillard 1 collaboration

Christian Lavigne 1 collaboration

Nadia Belmatoug 1 collaboration

Yurdagül Uzunhan 1 collaboration

Didier Lacombe 1 collaboration

Aymeric Duvivier 1 collaboration

Ruth Pulikottil-Jacob 1 collaboration

Fernando Laredo 1 collaboration

None None 1 collaboration

Dita Musalkova 1 collaboration

Filip Majer 1 collaboration

Ladislav Kuchar 1 collaboration

Ondrej Luksan 1 collaboration

Befekadu Asfaw 1 collaboration

Hana Vlaskova 1 collaboration

Gabriela Storkanova 1 collaboration

Martin Reboun 1 collaboration

Helena Poupetova 1 collaboration

Helena Hulkova 1 collaboration

Jana Ledvinova 1 collaboration

Lenka Dvorakova 1 collaboration

Jakub Sikora 1 collaboration

Milan Jirsa 1 collaboration

Martin Hrebicek 1 collaboration

Cécile Freihuber 1 collaboration

Bahia Dahmani-Rabehi 1 collaboration

Claude Cances 1 collaboration

Brigitte Chabrol 1 collaboration

Didier Eyer 1 collaboration

François Labarthe 1 collaboration

Philippe Latour 1 collaboration

Margaret M McGovern 1 collaboration

Melissa P Wasserstein 1 collaboration

K Eugen Mengel 1 collaboration

Qi Zhang 1 collaboration

M Judith Peterschmitt 1 collaboration

William S Garver 1 collaboration

Robert Giugliani 1 collaboration

F John Meaney 1 collaboration

Yann Nadjar 1 collaboration

Olivier Morand 1 collaboration

Barbara Schwierin 1 collaboration

Benedicte Héron 1 collaboration

Shaun C Bolton 1 collaboration

Vina Soran 1 collaboration

Mercedes Pineda Marfa 1 collaboration

Paul Gissen 1 collaboration

Reena Sharma 1 collaboration

Simon Jones 1 collaboration

Saikat Santra 1 collaboration

Ellen Crushell 1 collaboration

Miriam Stampfer 1 collaboration

Maria Jose Coll 1 collaboration

Toni Mathieson 1 collaboration

Melissa Wasserstein 1 collaboration

Subadra Wanninayake 1 collaboration

Shaun Christopher Bolton 1 collaboration

Anna Lehman 1 collaboration

Justin Hopkin 1 collaboration

Daniel de Vicente Corbeira 1 collaboration

Shyam Madathil 1 collaboration

Fatih Ezgü 1 collaboration

Magali Pettazzoni 1 collaboration

Barbara Sjouke 1 collaboration

Carla Hollak 1 collaboration

Margaret McGovern 1 collaboration

Edward Schuchman 1 collaboration