List of works - Kristl G Claeys

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

scientific article

Anterior interosseous mononeuropathy associated with HEV infection

scientific article published on 22 December 2017

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

scientific article published on 21 March 2016

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

scientific article published on 12 September 2016

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

scientific article published on 12 February 2019

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

scientific article published on 20 October 2017

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

scientific article published on 28 August 2009

Congenital myopathies: an update

scientific article published on 02 October 2019

Core-rod myopathy caused by mutations in the nebulin gene

article

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

scientific article published on 01 October 2010

Detection of myositis-specific antibodies.

scientific article

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

scientific article published on 7 November 2016

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

scientific article published on 6 August 2013

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

scientific article published on 8 October 2013

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

scientific article published on 17 January 2009

Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?

scientific article published on 26 January 2015

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

scientific article published on 21 January 2019

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

scientific article

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

scientific article published on 05 November 2005

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

scientific article published on 10 July 2015

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

scientific article published on 19 June 2019

Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres

scientific article published on 03 May 2018

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

scientific article published on 07 June 2019

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

scientific article published on 01 August 2010

Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment

scientific article published on 14 July 2018

Limb girdle muscular dystrophy due to mutations in POMT2.

scientific article published on 24 November 2017

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

Malignant hyperthermia: still an issue for neuromuscular diseases?

scientific article published on 01 October 2018

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

scientific article published on 14 June 2019

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

scientific article

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

scientific article

Mitochondrial abnormalities in myofibrillar myopathies

scientific article published on 01 March 2014

Motor cortex metabolite alterations in amyotrophic lateral sclerosis assessed in vivo using edited and non-edited magnetic resonance spectroscopy

scientific article published on 16 April 2019

Myofibrillar myopathies.

scientific article published on January 2013

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

scientific article published on 27 March 2019

Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI

scientific article published on 21 November 2012

Myositis as a neuromuscular complication of immune checkpoint inhibitors

scientific article published on 29 January 2020

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

scientific article published on 12 May 2017

Novel FHL1 mutation in a family with reducing body myopathy

scientific article published on 21 November 2012

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

scientific article

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

scientific article published on 6 March 2015

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

scientific article published on 15 September 2020

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Papillary thyroid carcinoma presenting with severe Guillain-Barré syndrome

scientific article published on 20 December 2019

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis

scientific article published on 15 February 2017

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

scientific article published on 01 February 2014

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

scientific article published on April 1, 2011

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

scientific article published in December 2019

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

scientific article published on 17 May 2017

Serum neurofilament heavy chains as early marker of motor neuron degeneration

scientific article published on 13 September 2019

Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis

scientific article published on 18 July 2018

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

scientific article

The proximal medial sural nerve biopsy model: a standardised and reproducible baseline clinical model for the translational evaluation of bioengineered nerve guides

scientific article

Towards a functional pathology of hereditary neuropathies

scientific article published on 28 November 2016

Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome

scientific article published on 20 September 2016

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

scientific article

Two-component collagen nerve guides support axonal regeneration in the rat peripheral nerve injury model

scientific article published on 16 December 2016

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

scientific article published on 4 March 2016

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

scientific article published on 30 April 2022

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

scientific article

Whole-body muscle Magnetic Resonance Imaging in patients with muscle symptoms: incidental findings and outcomes

scientific article published on 05 September 2020

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

scientific article published on 27 September 2016

List of works by Kristl G Claeys

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

Anterior interosseous mononeuropathy associated with HEV infection

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Congenital myopathies: an update

Core-rod myopathy caused by mutations in the nebulin gene

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

Detection of myositis-specific antibodies.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

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

Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment

Limb girdle muscular dystrophy due to mutations in POMT2.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Malignant hyperthermia: still an issue for neuromuscular diseases?

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Mitochondrial abnormalities in myofibrillar myopathies

Motor cortex metabolite alterations in amyotrophic lateral sclerosis assessed in vivo using edited and non-edited magnetic resonance spectroscopy

Myofibrillar myopathies.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI

Myositis as a neuromuscular complication of immune checkpoint inhibitors

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

Novel FHL1 mutation in a family with reducing body myopathy

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

PRRT2 mutations: exploring the phenotypical boundaries.

Papillary thyroid carcinoma presenting with severe Guillain-Barré syndrome

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

Serum neurofilament heavy chains as early marker of motor neuron degeneration

Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

The proximal medial sural nerve biopsy model: a standardised and reproducible baseline clinical model for the translational evaluation of bioengineered nerve guides

Towards a functional pathology of hereditary neuropathies

Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Two-component collagen nerve guides support axonal regeneration in the rat peripheral nerve injury model

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Whole-body muscle Magnetic Resonance Imaging in patients with muscle symptoms: incidental findings and outcomes

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC