ProfileOfResearchers

Identified 2

1

TITLE: Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice Full Text
AUTHORS: Carlo Wilke; Eva Haas; Kathrin Reetz; Jennifer Faber; Hector Garcia Moreno; Magda M Santana; Bart van de Warrenburg; Holger Hengel; Manuela Lima; Alessandro Filla; Alexandra Durr; Bela Melegh; Marcella Masciullo; Jon Infante; Paola Giunti; Manuela Neumann; Jeroen de Vries; Luis P Pereira de Almeida; Maria Rakowicz; Heike Jacobi; Rebecca Schuele; Stephan A Kaeser; Jens Kuhle; Thomas Klockgether; Ludger Schoels; Christian Barro; Jeannette Huebener Schmid; Matthis Synofzik; ...More
PUBLISHED: 2020, SOURCE: EMBO MOLECULAR MEDICINE, VOLUME: 12, ISSUE: 7

INDEXED IN:

WOS

2

TITLE: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
AUTHORS: Rene G Feichtinger; Bettina E Mucha; Holger Hengel; Zakaria Orfi; Christine Makowski; Junio Dort; Guy D'Anjou; Nguyen, TTM; Rebecca Buchert; Hendrik Juenger; Peter Freisinger; Sarah Baumeister; Benedikt Schoser; Uwe Ahting; Reinhard Keimer; Cam Tu Emilie Nguyen; Paul Fabre; Julie Gauthier; Marguerite Miguet; Fatima Lopes; Afnan AlHakeem; Amal AlHashem; Brahim Tabarki; Krishna Kumar Kandaswamy; Peter Bauer; Peter Steinbacher; Holger Prokisch; Marc Sturm; Tim M Strom; Benjamin Ellezam; Johannes A Mayr; Ludger Schoels; Jacques L Michaud; Philippe M Campeau; Tobias B Haack; Nicolas A Dumont; ...More
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 11

INDEXED IN:

Scopus

WOS

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