K. Peeters

发表

Metal concentrations, sperm motility, and RNA/DNA ratio in two echinoderm species from a highly contaminated fjord (the Sørfjord, Norway)

P. Dubois, H. Cabral, A. Catarino, 2008 .

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

A. Jordanova, E. De Vriendt, K. Peeters, 2021, Molecular genetics & genomic medicine.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

C. Broeckhoven, C. van Broeckhoven, S. Engelborghs, 2015, Molecular Psychiatry.

Progranulin variability has no major role in Parkinson disease genetic etiology

C. Broeckhoven, K. Sleegers, S. Engelborghs, 2008, Neurology.

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

C. van Broeckhoven, S. Jander, A. Jordanova, 2019, Orphanet Journal of Rare Diseases.

NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype

E. Gallardo, J. Infante, A. Jordanova, 2015, Journal of Neurology.

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

T. Hornemann, B. Asselbergh, D. Blocquel, 2017, Neurology.

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

V. Timmerman, A. Jordanova, I. Litvinenko, 2015, Human mutation.

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

S. Engelborghs, R. Vandenberghe, M. Cruts, 2009, Neurology.

Charcot–Marie–Tooth disease type 2G redefined by a novel mutation in LRSAM1

B. Menten, E. Gallardo, V. Timmerman, 2016, Annals of neurology.

Genetic contribution of FUS to frontotemporal lobar degeneration

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2010, Neurology.

Sperm as a Carrier of Genome Instability in Relation to Paternal Lifestyle and Nutritional Conditions

D. De Neubourg, U. Punjabi, K. Peeters, 2022, Nutrients.

Charcot–Marie–Tooth disease type 2G redefined by a novel mutation in LRSAM1

E. Gallardo, V. Timmerman, J. Infante, 2016, Annals of neurology.

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

S. Scherer, A. Jordanova, J. Baets, 2022, Orphanet Journal of Rare Diseases.

Sperm nuclear maturity and chromatin stability in subfertile patients: Density gradient centrifugation is fair but non-discriminative in selecting the right population.

D. De Neubourg, U. Punjabi, K. Peeters, 2019, Reproductive biology.

A search for molecular mechanisms underlying male idiopathic infertility.

S. Dewilde, D. Hoogewijs, An Bracke, 2017, Reproductive biomedicine online.

Placebo-controlled trial of high-dose Mesterolone treatment of idiopathic male infertility.

P. Hellemans, J. Gerris, F. Comhaire, 1991 .

Semen Thresholds of Normality Established by the WHO Do Not Reveal Genome Instability—A Potential Occult Male Factor

D. De Neubourg, U. Punjabi, K. Peeters, 2023, Genes.

Placebo‐controlled trial of high‐dose Mesterolone treatment of idiopathic male infertility

P. Hellemans, J. Gerris, F. Comhaire, 1992, Fertility and sterility.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Hanns Lochmüller, V. Timmerman, A. Suls, 2011, Neurology.

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

F. Pasquier, C. Broeckhoven, K. Sleegers, 2011, Molecular Psychiatry.

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

B. Asselbergh, V. Timmerman, T. Ooms, 2013, American journal of human genetics.

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

A. Jordanova, T. Chamova, K. Peeters, 2014, Brain : a journal of neurology.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

B. Ceulemans, Y. Parman, E. Battaloğlu, 2011, Brain : a journal of neurology.

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

E. Gallardo, J. Infante, A. Jordanova, 2017, Journal of Neurology.

Axonal neuropathy with neuromyotonia: there is a HINT

A. Jordanova, I. Tournev, T. Chamova, 2016, Brain : a journal of neurology.

HINT1 neuropathy in Norway: clinical, genetic and functional profiling

A. Jordanova, E. De Vriendt, L. Strand, 2021, Orphanet Journal of Rare Diseases.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

P. D. Rijk, S. Züchner, Y. Parman, 2012, Nature Genetics.

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

K. Sleegers, S. Engelborghs, S. Maurer-Stroh, 2008, Neurology.

Progranulin locus deletion in frontotemporal dementia

C. Broeckhoven, S. Engelborghs, M. Cruts, 2008, Human mutation.

NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

T. López-Alburquerque, E. Gallardo, J. Infante, 2016, Journal of Neurology.

LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond

A. Jordanova, J. Berciano, K. Peeters, 2021, Orphanet Journal of Rare Diseases.

This item is the archived peer-reviewed author-version of: Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1 Reference:

B. Menten, E. Gallardo, J. Infante, 2017 .