Ralf A Husain

7PUBLICATIONS
78CO-AUTHORS
Molecular targetsGene mappingMedical devicesMedical biochemistry - amino acids and metabolitesNeurology and neuromuscular diseases
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Publications (7)

|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

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