Julien Park

11PUBLICATIONS
77CO-AUTHORS
Sensory systemsGene and molecular therapyNeurology and neuromuscular diseasesPredictive and prognostic markersDevelopmental genetics (incl. sex determination)
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Publications (11)

|Sep 03, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Julien Park, Tatiana Bremova-Ertl, Marion Brands

|Apr 03, 2024
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi

|Jan 31, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Tatiana Bremova-Ertl, Uma Ramaswami, Marion Brands

|Sep 09, 2023
Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.

Karl Kunzelmann, Jiraporn Ousingsawat, Andre Kraus

|Feb 16, 2023
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.

Julien H Park, Ulrika Nordström, Konstantinos Tsiakas

|Nov 17, 2021
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Shlomit Ezer, Muhannad Daana, Julien H Park

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Frequent Collaborators

5 joint publications

Thorsten Marquardt

2 joint publications

Jordan W Smoller

2 joint publications

Richard D Cummings

2 joint publications

Robert G Mealer