User profiles for Danique Beijer
 | Danique BeijerUniversity of Tübingen Verified email at uni-tuebingen.de Cited by 509 |
[HTML][HTML] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
…, CK Scriba, C Ashton, C Yanick, D Beijer… - … England Journal of …, 2023 - Mass Medical Soc
Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …
[HTML][HTML] Deep structured learning for variant prioritization in Mendelian diseases
Effective computer-aided or automated variant evaluations for monogenic diseases will
expedite clinical diagnostic and research efforts of known and novel disease-causing genes. …
expedite clinical diagnostic and research efforts of known and novel disease-causing genes. …
[PDF][PDF] Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease
ARH3/ADPRHL2 and PARG are the primary enzymes reversing ADP-ribosylation in vertebrates,
yet their functions in vivo remain unclear. ARH3 is the only hydrolase able to remove …
yet their functions in vivo remain unclear. ARH3 is the only hydrolase able to remove …
[HTML][HTML] Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1
are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). …
are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). …
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Background and purpose Ataxia and cough are rare features in hereditary sensory and
autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic …
autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic …
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN)
are clinically and genetically heterogeneous disorders exclusively or predominantly …
are clinically and genetically heterogeneous disorders exclusively or predominantly …
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
D Beijer, T Deconinck, JL De Bleecker, MT Dotti… - Brain, 2019 - academic.oup.com
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies
hallmarked by a length-dependent axonal degeneration of lower motor neurons without …
hallmarked by a length-dependent axonal degeneration of lower motor neurons without …
[HTML][HTML] Standards of NGS data sharing and analysis in ataxias: recommendations by the NGS working group of the ataxia global initiative
The Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform to
systematically enhance trial-readiness in degenerative ataxias. The next-generation sequencing (…
systematically enhance trial-readiness in degenerative ataxias. The next-generation sequencing (…
[HTML][HTML] Defects in axonal transport in inherited neuropathies
Axonal transport is a highly complex process essential for sustaining proper neuronal
functioning. Disturbances can result in an altered neuronal homeostasis, aggregation of cargoes, …
functioning. Disturbances can result in an altered neuronal homeostasis, aggregation of cargoes, …
The expanding genetic landscape of hereditary motor neuropathies
Hereditary motor neuropathies are clinically and genetically diverse disorders characterized
by length-dependent axonal degeneration of lower motor neurons. Although currently as …
by length-dependent axonal degeneration of lower motor neurons. Although currently as …