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M

Matthias Gautschi

University of Bern
H指数:28
被引数:4,166

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Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency

NDUFA5基因的双等位基因变异导致伴有复合体I缺乏的线粒体病

The American Journal of Human Genetics
IF0
2026-03-300
OA
Natalie B. Tan; Matthias Gautschi; Michael Raum; Daniella H. Hock; Robert Kopajtich; Jia Wang; Xiao Qian; Tanavi Sharma; Timothy E. Green; Jean-Marc Nuoffer; Katrina M. Bell; Katarzyna Pospieszny; Tegan Stait; Chloe Pike; Michelle Cao; Susan M. White; David R. Thorburn; Theresa Brunet; Matias Wagner; Wolfgang Müller-Felber
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology

杂合性SRRM1缺失可能与神经发育表型以及细胞生长和神经突形态异常相关。

European Journal of Human Genetics
IF4.6
2025-10-270
OA
Melek Firat Altay; Anne Gregor; Dominique Braun; Claudine Rieubland; Matthias Gautschi; Eveline Perret Hoigné; Rike Schiller; Boris Keren; Alejandra Afenjar; Julian A. Martinez-Agosto; Jill A. Rosenfeld; Christiane Zweier
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial

Arimoclomol在尼曼-皮克病C型中的长期疗效与安全性：NPC-002 48个月开放标签扩展试验2/3期的最终结果

Molecular Genetics and Metabolism
IF3.5
2025-07-070
PRE
Eugen Mengel; Rosalia M. Da Riol; Mireia Del Toro; Federica Deodato; Matthias Gautschi; Stephanie Grunewald; Sabine Weller Grønborg; Paul Harmatz; Julia B. Hennermann; Bénédicte Héron; Esther M. Maier; Saikat Santra; Reena Sharma; Anna Tylki-Szymanska; Malene Cording; Louise Himmelstrup; Sven Guenther; Christine í Dali
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

依帕列净治疗21例糖原贮积病1b婴儿的中性粒细胞减少和中性粒细胞功能障碍

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-06-011
OAAI
Gruenert, Sarah C.; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Ciki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G. J.; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D. K.; Korman, Stanley H.; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; Rossi, Alessandro; Spenger, Johannes; Spiegel, Ronen; Stephenne, Xavier; Stojkov, Darko; Tal, Galit; Cunha, Maria Veiga-da; Wortmann, Saskia B.
Trial of N-Acetyl-L-Leucine in Niemann-Pick Disease Type C
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-02-018
PRE
Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H.; Reichmannova, Stella; Schneider, Susanne A.; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos
Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-02-010
PRE
Fields, Taylor; Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Kolnikova, Miriam; Arash-Karps, Laila; Mengel, Eugen; Park, Julien; Reichmannova, Stella; Schneider, Susanne; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos
Galactose epimerase deficiency: lessons from the GalNet registry
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-09-022
OAAI
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R.; Banford, Samantha; Burlina, Alberto B.; Cabrera, Analia; Chiesa, Ana; Couce, M. Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grunewald, Stephanie; Morava, Eva; Moslinger, Dorothea; Scholl-Burgi, Sabine; Skouma, Anastasia; Stepien, Karolina M.; Timson, David J.; Berry, Gerard T.; Rubio-Gozalbo, M. Estela
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study

arimoclomol对C型niemann-pick病患者的持续作用: 关键2/3期研究的开放标签扩展的24个月结果

MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-02-010
PRE
Patterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study (vol 15, 328, 2020)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-06-011
OAAI
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; Dali, Christine i
Persistent effect of arimoclomol in patients with Nuemann-Pick disease type C: 12-month results from an open-label extension of a pivotal phase 2/3 study
MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-02-010
PREAI
Patterson, Marc C.; Mengel, Eugen; Da Riol, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.

研究方向

暂未获取到该数据
S
Stephanie Grünewald
H 指数:46论文数:195被引数:7,086
J
Jean‐Marc Nuoffer
H 指数:32论文数:301被引数:3,303
E
Eugen Mengel
H 指数:14论文数:59被引数:1,118
M
Marc C. Patterson
H 指数:62论文数:358被引数:1.3万
F
Federica Deodato
H 指数:31论文数:103被引数:3,260
M
Mireia del Toro
H 指数:25论文数:99被引数:3,134
S
Sabine Rospert
H 指数:44论文数:93被引数:6,358
S
Saikat Santra
H 指数:37论文数:142被引数:4,832
E
Esther M. Maier
H 指数:37论文数:146被引数:4,262
S
Sabine Grønborg
H 指数:21论文数:69被引数:1,556