Heinz Jungbluth

Also affiliated with Guy's and St Thomas' NHS Foundation Trust

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 11 papers. Top paper: “Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy”.

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

JAMA Network Open(2022)10.1001/jamanetworkopen.2021.44178

N/A

2.0DataRank · unranked

89 citations

Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, M. Tulinius +92 more

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

UNC Libraries(2020)10.17615/hrbk-2487

N/A

0DataRank · unranked

4 citations

Michael Rose, Farshid Ghassemi, Susan Treves, Stefan Buk, Caroline A. Sewry +15 more

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity

UNC Libraries(2020)10.17615/tf8s-a256

N/A

0DataRank · unranked

0 citations

Mirko Vukcevic, Gerhard Meissner, Farshid Ghassemi, Francesco Zorzato, Heinz Jungbluth +4 more

Making sense of missense variants in TTN-related congenital myopathies

Acta Neuropathologica(2021)10.1007/s00401-020-02257-0

N/A

0DataRank · unranked

67 citations

Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige +40 more

Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

SSRN Electronic Journal(2021)10.2139/ssrn.3801723

N/A

0DataRank · unranked

2 citations

Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese +60 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Gene therapy for X-linked myotubular myopathy: the challenges

The Lancet Neurology(2023)10.1016/s1474-4422(23)00416-7

N/A

0DataRank · unranked

6 citations

Ana Ferreiro, Annemieke Aartsma‐Rus, Heinz Jungbluth, Nicol C. Voermans

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective

Journal of Neuromuscular Diseases(2024)10.3233/jnd-240029

N/A

0DataRank · unranked

3 citations

Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sárközy +8 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy

JCI Insight(2025)10.1172/jci.insight.194868

N/A

0DataRank · unranked

3 citations

F. Rostedt, Charlotte Gineste, Robert A. Seaborne, Hannah F. Dugdale, Vladimir Belhac +12 more