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List of works by Heinz Jungbluth

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands

scientific article published in November 2004

150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands

scientific article

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

scientific article published on 14 August 2009

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands

scientific article published on 5 January 2012

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

scientific article published on 7 June 2016

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

scientific article published on 27 March 2019

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

scientific article published on 18 January 2013

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

scientific article published on June 2002

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

scientific article

A short protocol for muscle MRI in children with muscular dystrophies

scientific article published in January 2002

A short protocol for muscle MRI in children with muscular dystrophies

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

scientific article published on 01 April 2019

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

scientific article

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases ⬇️

scientific article published on November 1, 2010

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

scientific article published on 5 July 2016

An unusual case of hyperekplexia

scientific article published on 01 January 2000

Approach to the diagnosis of congenital myopathies

scientific article

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

scientific article published on 3 January 2018

Autophagy--a fundamental cellular mechanism on the verge of clinical translation

scientific article published on 19 May 2015

Autopsy findings in EPG5-related Vici syndrome with antenatal onset

scientific article published on 27 July 2017

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

scientific article published in July 2002

BAG3 mutations: another cause of giant axonal neuropathy

scientific article published on 01 June 2012

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum

scientific article published on 31 October 2013

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

scientific article published on 11 May 2016

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

scientific article published on 14 July 2016

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

scientific article published on 22 December 2016

Central core disease

scientific article

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

scientific article published on 22 November 2009

Characterization of recessive RYR1 mutations in core myopathies

Characterization of recessive RYR1 mutations in core myopathies

scientific article published on 29 August 2006

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

scientific article

Clinical utility gene card for: Central core disease

scientific article

Clinical utility gene card for: Centronuclear and myotubular myopathies

scientific article

Clinical utility gene card for: Multi-minicore disease.

scientific article

Clinical utility gene card for: Vici Syndrome.

scientific article published on 10 July 2013

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia ⬇️

scientific article published on September 1, 2001

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

scientific article published on 28 September 2017

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

scientific article published on 29 December 2015

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

scientific article published on 04 March 2008

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

scientific article published on 10 July 2010

Congenital myasthenic syndromes in childhood: diagnostic and management challenges

scientific article published on 15 August 2008

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

scientific article published on 08 February 2013

Congenital myopathies: Natural history of a large pediatric cohort

scientific article

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

scientific article published on 2 February 2018

Congenital myopathies: not only a paediatric topic.

scientific article

Congenital myopathy with focal loss of cross-striations revisited.

scientific article published on 3 November 2012

Consensus statement on standard of care for congenital myopathies

scientific article published on March 2012

Core myopathies

scientific article published on December 2011

Current and future therapeutic approaches to the congenital myopathies.

scientific article published on 8 August 2016

Dantrolene as a possible prophylactic treatment forRYR1-related rhabdomyolysis

scientific article published on 01 August 2016

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

scientific article published on 27 April 2016

Driving next-generation autophagy researchers towards translation (DRIVE), an international PhD training program on autophagy

scientific article published on 13 September 2018

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects

article

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)

scientific article published on 01 April 2000

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

scientific article

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

scientific article

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

scientific article

Exertional hyperckemia might be the first manifestation of a genetic disorder

scientific article published on 27 July 2013

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

scientific article published on 07 September 2016

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

scientific article

Extensive white matter abnormalities associated with neonatal Parechovirus (HPeV) infection.

scientific article published on 25 January 2010

Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series

scientific article published on 19 February 2019

Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies

scientific article

Functional effects of mutations identified in patients with multiminicore disease

scientific article published on January 2007

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

scientific article published on 09 November 2018

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

scientific article published on April 2006

Generalized calcification in a case of dermatomyositis

scientific article published on 01 February 2000

Genetic disorders of thyroid metabolism and brain development

scientific article

Genetic neuropathies presenting with CIDP-like features in childhood

scientific article published on 30 November 2020

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

scientific article published on 06 March 2010

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy

scientific article published on 2 April 2015

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

article by Daniel J Klionsky et al published January 2021 in Autophagy

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

scientific article published on 22 March 2016

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

scientific article published on 25 March 2011

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

scientific article published on 19 June 2019

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy: Supplemental figures 1-3; supplemental tables 1-3

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

scientific article published on 3 December 2010

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

scientific article published on January 2009

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

article

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

scientific article published on 19 March 2009

Lyme Neuroborreliosis: A Potentially Preventable Cause of Stroke

scientific article published on 06 January 2016

MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement

scientific article published on 28 November 2006

MYO-MRI diagnostic protocols in genetic myopathies

scientific article published on 16 September 2019

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

scientific article published in December 2004

Magnetic resonance imaging of muscle in nemaline myopathy

Minicore myopathy in children: a clinical and histopathological study of 19 cases

scientific article published in June 2000

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

scientific article

Multi-minicore Disease

scientific article published on 13 July 2007

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

scientific article

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

scientific article published on 01 January 2002

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

scientific article published on 22 April 2008

Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders

scientific article

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

scientific article published in September 2011

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

scientific article published on 10 July 2012

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

scientific article published on 28 April 2013

Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm

scientific article published on 13 October 2014

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

scientific article

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

scientific article published on 11 June 2013

Myopathic causes of exercise intolerance with rhabdomyolysis ⬇️

scientific article published on May 23, 2012

Myopathology in times of modern imaging

scientific article published on 23 January 2017

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

scientific article published on 27 February 2013

Nebulin mutations in autosomal recessive nemaline myopathy: an update

scientific article published on 01 October 2002

Neck-Tongue Syndrome: An Underrecognized Childhood Onset Cephalalgia

scientific article published in January 2018

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

scientific article published on 21 March 2012

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

scientific article published on February 2013

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

scientific article

Ophthalmologic features of Vici syndrome

scientific article published on 30 April 2014

Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy.

scientific article published in October 2013

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Parental mosaicism in RYR1-related Central Core Disease

scientific article published on 26 February 2018

Pathogenic mechanisms in centronuclear myopathies

scientific article published in 2014

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

scientific article published on 2 August 2011

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

scientific article published on 5 January 2017

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

scientific article

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature

scientific article published on 18 March 2020

RYR1 mutations are a common cause of congenital myopathies with central nuclei

scientific article published on November 2010

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

scientific article published on 20 September 2016

Recessive MYH7-related myopathy in two families

scientific article published on 12 April 2019

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

scientific article

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy

scientific article published on 7 January 2015

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

scientific article published on 24 June 2016

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

scientific article

Rhabdomyolysis: a genetic perspective.

scientific article published on 2 May 2015

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling

scientific article published on 17 April 2013

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

scientific article published on 14 April 2015

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

scientific article published on 11 October 2018

Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome

scientific article published on 20 January 2016

Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

scientific article published on 01 February 2002

Severe Central Sleep Apnea in Vici Syndrome.

scientific article

Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration

scientific article published on 17 November 2017

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility

scientific article published on 19 May 2016

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

scientific article published on 9 March 2009

The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome

scientific article published on 14 April 2010

Therapeutic Aspects in Congenital Myopathies

scientific article published on 16 January 2019

Transcriptional Regulation of the Glutamate/GABA/Glutamine Cycle in Adult Glia Controls Motor Activity and Seizures in Drosophila

scientific article published on 07 May 2019

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Unusual Presentations of Dystrophinopathies in Childhood.

scientific article published in April 2018

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

article

Vici syndrome: a review

scientific article

What's new in neuromuscular disorders? The congenital myopathies

scientific article

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

scientific article published on 7 October 2009

X-inactivation patterns in carriers of X-linked myotubular myopathy

scientific article

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

scientific article published on 09 December 2011

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