Heike Kolbel

Essen, NW, Germany

Last Updated: 09/26/2026

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Found 88 publications

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland - part II - expert based recommendations for surveillance and management of side-effects.

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland - part II - expert based recommendations for surveillance and management of side-effects.

Journal: Journal of neuromuscular diseases

Published: August 27, 2026

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

Malaria in Children is Associated with a High Rate of Neurological Sequelae and Need for Rehabilitative Therapies in Germany.

Malaria in Children is Associated with a High Rate of Neurological Sequelae and Need for Rehabilitative Therapies in Germany.

Journal: Klinische Padiatrie

Published: February 06, 2026

When muscles matter in SORD neuropathy.

When muscles matter in SORD neuropathy.

Journal: Journal of neuropathology and experimental neurology

Published: January 20, 2026

Chiari Malformation Type I with Compression of the Cervical Myelon as a Cause of Laryngomalacia.

Chiari Malformation Type I with Compression of the Cervical Myelon as a Cause of Laryngomalacia.

Journal: Klinische Padiatrie

Published: December 23, 2025

Post-intensive care sequelae after severe bacterial infections in previously healthy children.

Post-intensive care sequelae after severe bacterial infections in previously healthy children.

Journal: Molecular and cellular pediatrics

Published: December 21, 2025

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.

Journal: Journal of neuromuscular diseases

Published: November 24, 2025

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal: Journal of neuromuscular diseases

Published: November 18, 2025

A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy.

A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy.

Journal: Expert review of neurotherapeutics

Published: November 13, 2025

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Journal: Journal of clinical medicine

Published: October 21, 2025

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.

Journal: American journal of human genetics

Published: October 18, 2025

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

Journal: Clinical genetics

Published: October 08, 2025

Showing 1-12 of 88

Last Updated: 09/26/2026