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M

Martin Magner

general university hospital
H指数:23
被引数:1,575

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Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey

α-甘露糖苷酶缺乏症患者照护者的生活质量及负担：一项国际调查

Orphanet Journal of Rare Diseases
IF3.5
2026-07-220
OA
Julia B. Hennermann; Nathalie Guffon; Sophie Thomas; Karolina M. Stepien; Christina Lampe; Nicole M. Muschol; Maria Juliana Ballesta-Martínez; Jordi Cruz; Mónica López-Rodríguez; Anneliese Barth; Allan M. Lund; Vasilica Plaiasu; Chiara Donati; Heather M. Morgan; Andrea Ballabeni; Martin Magner
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries

糖原贮积症IX型：来自三个欧洲国家的52例患者的长期随访

Molecular Genetics and Metabolism Reports
IF1.9
2026-02-010
PRE
Magner, Martin; Saho, Robert; Slavikova, Petra; Bakalar, Radovan; Dvorakova, Lenka; Peskova, Karolina; Ramadza, Danijela Petkovic; Baric, Ivo; Ilic, Nikola; Cechova, Anna; Reboun, Martin; Vlaskova, Hana; Kelifova, Silvie; Jesina, Pavel; Prochazkova, Dagmar; Hansikova, Hana; Honzik, Tomas; Zeman, Jiri
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

elosulfase alfa酶替代疗法在MPS IVA成人中的长期疗效：Morquio A登记研究（MARS）的亚组分析

Orphanet Journal of Rare Diseases
IF3.5
2025-10-310
OAAI
Karolina M. Stepien; Barbara K. Burton; Michael B. Bober; Philippe M. Campeau; Carolyn Ellaway; Kaustuv Bhattacharya; Nathalie Guffon; David Hinds; Abigail Hunt; Alice Lail; Shuan-Pei Lin; Martin Magner; Elaine Murphy; Pascal Reisewitz; John J. Mitchell
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

α-甘露糖苷酶缺乏症患者移动能力、疼痛/不适、自我护理及心理健康的变化：一项国际照护者与患者调查

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-05-070
OA
Stepien, Karolina M.; Thomas, Sophie; Hennermann, Julia B.; Lampe, Christina; Muschol, Nicole M.; Ballesta-Martinez, Maria Juliana; Cruz, Jordi; Lopez-Rodriguez, Monica; Barth, Anneliese; Magner, Martin; Lund, Allan M.; Plaiasu, Vasilica; Ballabeni, Andrea; Dona, Francesca; Morgan, Heather M.; Guffon, Nathalie
Outcome of hematopoietic stem cell transplantation in 19 patients with alpha-mannosidosis
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-02-010
PRE
Saho, Robert; Formankova, Renata; Eisengart, Julie B.; Lund, Allan; Videbaek, Cecilie; Gurbuz, Berrak Bilginer; Ozbek, Namik Yasar; Al Jasmi, Fatma; Jesina, Pavel; Feillet, Francois; Pochon, Cecile; Guemann, Anne-Sophie; Alsayed, Moeen; Laktina, Sabine; Ucar, Sema Kalkan; Aksoylar, Serap; Lund, Troy; Orchard, Paul J.; Eminoglu, Fatma T.; Ileri, Talia; Kasapkara, cigdem S.; Yesilipek, Akif; Tuncel, Ali Tunc; Jurickova, Katarina; Magner, Martin
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-08-011
OAAI
Guffon, Nathalie; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica A.; Jayakar, Parul; Lund, Allan M.; Tal, Galit; Garcia-Ortiz, Jose Elias; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara S.; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian B.; Scarpa, Maurizio; Sutton, V. Reid; Muschol, Nicole
The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C
JOURNAL OF AUTOIMMUNITY
IF7
2024-07-010
PRE
Caorsi, Roberta; Consolaro, Alessandro; Speziani, Camilla; Sozeri, Betul; Ulu, Kadir; Faugier-Fuentes, Enrique; Menchaca-Aguayo, Hector; Ozen, Seza; Sener, Seher; Rahman, Shahana Akhter; Islam, Mohammad Imnul; Haerynck, Filomeen; Simonini, Gabriele; Viviana Mastri, Mariel; Avcin, Tadej; Srsen, Sasa; Pedrosa Fernandes, Taciana de Albuquerque; Stanevicha, Valda; Vojinovic, Jelena; Sobh, Ali; Fingerhutova, Sarka; Minxova, Lenka; Gagro, Alenka; Fonseca, Adriana Rodrigues; Pandya, Devang; Varbanova, Boriana; Sanchez-Manubens, Judith; Ganeva, Margarita; Montin, Davide; Boyarchuk, Oksana; Minghini, Andrea; Bracaglia, Claudia; Brogan, Paul; Candotti, Fabio; Cattalini, Marco; Meyts, Isabelle; Minoia, Francesca; Taddio, Andrea; Wouters, Carine; De Benedetti, Fabrizio; Bovis, Francesca; Ravelli, Angelo; Ruperto, Nicolino; Gattorno, Marco; Bilginer, Yelda; Laila, Kamrul; Islam, Mohammed Mahbubul; Meertens, Bram; Hoste, Levi; Dehoorne, Joke; Schelstraete, Petra; Vandekerckhove, Kristof; Willems, Jef; Matthijs, Inge; Beretta, Giovanni Filocamo e Gisella Beatrice; Magalhaes, Claudia Saad; Chubata, Oksana; Ricci, Francesca; Vukovic, Antonija; Temelkova, Katya; Avramovic, Mojca Zajc; Emersic, Nina; Bizjak, Masa; Vesel, Tina; Rodrigues, Marta Felix; de Almeida, Rozana Gasparello; Lukjanovica, Kristine; Elnagdy, Marwa H.; Soliman, Ahmed; Terifajova, Eva; Brejchova, Ivana; Magner, Martin; Myrup, Charlotte; Vougiouka, Olga; Jelusic, Marija; La Torre, Francesco; Rigante, Donato; Maggio, Maria Cristina; Verdoni, Lucio; Rubio-Perez, Nadina; Vega Cornejo, Gabriel; Villarreal Trevino, Ana Victoria; Brito, Iva; Oliveira-Ramos, Filipa; Alexeeva, Ekaterina; Chasnyk, Vyacheslav; Arkachaisri, Thaschawee; Boyko, Yaryna; Vyzhga, Yulia; Samsonenko, Svitlana
A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-02-010
PRE
Muschol, Nicole M.; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica; Jayakar, Parul; Lund, Allan; Tal, Galit; Garcia, Jose E.; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian; Scarpa, Maurizio; Sutton, V. Reid; Guffon, Nathalie
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-02-017
OAAI
Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.

研究方向

暂未获取到该数据
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