Danique Beijer

发表

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

K. Claeys, J. Weis, J. Schulz, 2022, Neurological Research and Practice.

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

B. Asselbergh, A. Malandrini, M. Dotti, 2019, Brain : a journal of neurology.

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

B. Ceulemans, I. Ahel, T. Deconinck, 2021, Life Science Alliance.

The expanding genetic landscape of hereditary motor neuropathies.

J. Baets, D. Beijer, Danique Beijer, 2020, Brain : a journal of neurology.

Biallelic ADPRHL2mutations in complex neuropathy affect ADP ribosylation and DNA damage response

B. Ceulemans, I. Ahel, T. Deconinck, 2021 .

Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

J. Baets, Liedewei Van de Vondel, D. Beijer, 2020, Brain : a journal of neurology.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

I. Ahel, M. L. Nielsen, L. Palazzo, 2021, Molecular cell.

Defects in Axonal Transport in Inherited Neuropathies

V. Timmerman, J. Baets, D. Beijer, 2019, Journal of neuromuscular diseases.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

R. Schüle, H. Houlden, A. Rebelo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

M. Devoto, D. Lazarević, S. Scherer, 2022, European journal of neurology.