# Janbernd Kirschner

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/janbernd-kirschner/

## Facts

| Field | Value |
| --- | --- |
| Citations | 21,996 |
| Field | Neurogenetic and Muscular Disorders Research |
| h-index | 65 |
| i10-index | 181 |
| OpenAlex ID | https://openalex.org/A5014011351 |
| ORCID iD | 0000-0003-1618-7386 |
| Works | 426 |

## Researcher papers

Showing 12 of 15.

- [Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy](https://scholariq.org/papers/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy/)
- [Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS](https://scholariq.org/papers/mutations-in-prion-like-domains-in-hnrnpa2b1-and-hnrnpa1-cause-multisystem/)
- [Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy](https://scholariq.org/papers/nusinersen-versus-sham-control-in-later-onset-spinal-muscular-atrophy/)
- [Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for/)
- [The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations](https://scholariq.org/papers/the-treat-nmd-dmd-global-database-analysis-of-more-than-7-000-duchenne-muscular/)
- [Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-2-pulmonary-and-acute/)
- [Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study](https://scholariq.org/papers/nusinersen-initiated-in-infants-during-the-presymptomatic-stage-of-spinal/)
- [Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial](https://scholariq.org/papers/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd/)
- [Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies](https://scholariq.org/papers/use-of-whole-exome-sequencing-to-determine-the-genetic-basis-of-multiple/)
- [Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study](https://scholariq.org/papers/nusinersen-in-adults-with-5q-spinal-muscular-atrophy-a-non-interventional/)
- [Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia](https://scholariq.org/papers/loss-of-nephrocystin-3-function-can-cause-embryonic-lethality-meckel-gruber-like/)
- [Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis](https://scholariq.org/papers/life-expectancy-at-birth-in-duchenne-muscular-dystrophy-a-systematic-review-and/)

## Researcher topics

- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [Muscle Physiology and Disorders](https://scholariq.org/topics/muscle-physiology-and-disorders/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Cardiomyopathy and Myosin Studies](https://scholariq.org/topics/cardiomyopathy-and-myosin-studies/)
- [Congenital Anomalies and Fetal Surgery](https://scholariq.org/topics/congenital-anomalies-and-fetal-surgery/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.