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Papers matching “Sanger sequencing” 6

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
2023 Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Feride Cinarli, Paschalis Nicolaou, Kerri Spontarelli, Maike Franziska Dohrn, Adriana P. Rebelo, Pantelitsa Koutsou, +5 more

11

citations
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
2024 Brain article Neuroscience Hereditary Neurological Disorders Open access

Danique Beijer, Maike Franziska Dohrn, Adriana P. Rebelo, Matt Christopher Danzi, Bianca Rose Grosz, Melina Ellis, +22 more

4

citations
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access

Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more

2

citations
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa
2024 Scientific Reports article Neuroscience Regulation of Appetite and Obesity Open access

Luisa Sophie Rajcsanyi, Yiran Zheng, Beate Herpertz‐Dahlmann, Jochen Seitz, Martina de Zwaan, Wolfgang Herzog, +10 more

7

citations
Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals
2023 Frontiers in Endocrinology article Neuroscience Regulation of Appetite and Obesity Open access

Yiran Zheng, Luisa Sophie Rajcsanyi, Manuela Kowalczyk, Johanna Giuranna, Beate Herpertz‐Dahlmann, Jochen Seitz, +15 more

6

citations
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa
2024 Research Square preprint Neuroscience Regulation of Appetite and Obesity Open access

Luisa Sophie Rajcsanyi, Yiran Zheng, Beate Herpertz‐Dahlmann, Jochen Seitz, Martina de Zwaan, Wolfgang Herzog, +10 more

0

citations

6 results