Ralf A Husain

6PUBLICATIONS
73CO-AUTHORS
Gene mappingMedical devicesMedical biochemistry - amino acids and metabolitesNeurology and neuromuscular diseasesInfant and child health
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Publications (6)

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

|Sep 10, 2025
Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.

Felix Distelmaier, Julia Corral-Sarasa, Laura Jiménez-Sánchez

|Jul 02, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

Nicole Hammann, Dominic Lenz, Alyssa Bianzano

|Dec 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Ralf A Husain, Xinfu Jiao, J Christopher Hennings

|Jul 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Astrid Pechmann, Max Behrens, Katharina Dörnbrack

|Dec 01, 2021
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Johanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer

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Frequent Collaborators

1 joint publications

Astrid Pechmann

1 joint publications

Regina Trollmann

1 joint publications

Gert Wiegand

1 joint publications

Janbernd Kirschner