J. Baets

发表

Transcriptional regulator PRDM12 is essential for human pain perception

David L. Bennett, Andreas C. Themistocleous, I. Katona, 2015, Nature Genetics.

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

W. Robberecht, A. Kochański, V. Timmerman, 2007, Brain : a journal of neurology.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

S. Züchner, E. Storey, K. Claeys, 2009, Brain : a journal of neurology.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

S. Klebe, S. Züchner, A. Durr, 2022, Movement disorders : official journal of the Movement Disorder Society.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

S. Mundlos, P. Krawitz, J. Hecht, 2014, Brain : a journal of neurology.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2019, Neurology.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

S. Züchner, C. Meisner, P. Bauer, 2017, Brain : a journal of neurology.

Congenital and Early Infantile Neuropathies

E. Yiu, J. Baets, 2015 .

TRPV4 neuropathies

P. de Jonghe, J. Baets, 2011, Neurology.

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

O. Combarros, E. Gallardo, V. Timmerman, 2011, Journal of Neurology.

Molecular Diagnosis of Mitochondrial Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

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.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

S. Züchner, R. Schüle, B. Ceulemans, 2015, BMC Medical Genetics.

Genetic pain loss disorders

David L. Bennett, T. Hornemann, Y. Parman, 2022, Nature Reviews Disease Primers.

TBK 1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

F. Jessen, C. Broeckhoven, K. Sleegers, 2019 .

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

F. Jessen, G. Frisoni, B. Bergmans, 2017, Human mutation.

Cerebellar ataxia in progressive supranuclear palsy: a clinico-pathological case report

P. Parizel, A. Sieben, S. Ceyssens, 2021, Acta neurologica Belgica.

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

S. Züchner, R. Schüle, M. Synofzik, 2018, Neurobiology of Aging.

Hereditary motor-sensory, motor, and sensory neuropathies in childhood.

P. de Jonghe, P. Landrieu, J. Baets, 2013, Handbook of clinical neurology.

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

B. Bergmans, C. van Broeckhoven, S. Engelborghs, 2018, Neurobiology of Aging.

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

V. Timmerman, A. Echaniz-Laguna, J. Baets, 2017, Brain : a journal of neurology.

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

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

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

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

Mechanisms of disease in hereditary sensory and autonomic neuropathies

K. Janssens, V. Timmerman, J. Baets, 2012, Nature Reviews Neurology.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

K. Amunts, W. Maier, D. Timmann, 2017, Brain : a journal of neurology.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, B. Schlotter-Weigel, 2010, American journal of human genetics.

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

N. Lévy, V. Timmerman, J. Weis, 2009, Brain : a journal of neurology.

N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome

V. Timmerman, V. Rakocevic-Stojanovic, J. Baets, 2010, Journal of the Neurological Sciences.

L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

A. Kochański, V. Timmerman, I. Hausmanowa-Petrusewicz, 2010, neurogenetics.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

A. Franke, R. Płoski, Michael A. Gonzalez, 2014, American journal of human genetics.

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

S. Züchner, C. Francklyn, S. Oprescu, 2018, Human mutation.

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

J. Baets, J. Cruces, R. Coster, 2012, European Journal of Human Genetics.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

A. Mes-Masson, B. Brais, H. Van Esch, 2011, American journal of human genetics.

Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity

W. Robberecht, V. Timmerman, E. Nelis, 2009, Neuromuscular Disorders.

Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay

F. Santorelli, S. Biffo, J. Baets, 2021, bioRxiv.

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

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

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2015, Brain : a journal of neurology.

The SCN1A variant database: a novel research and diagnostic tool

A. Suls, T. Deconinck, P. de Jonghe, 2009, Human mutation.

221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands

J. Louwerens, D. Pareyson, M. Shy, 2017, Neuromuscular Disorders.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

J. Liepert, C. Blackstone, S. Züchner, 2016, Neurology: Genetics.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

PhD survival guide

J. Baets, L. Almeida-Souza, 2012, EMBO reports.

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

J. Chilton, R. Blakely, E. Baple, 2018, Neurology: Genetics.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

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

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

Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation

J. D. De Bleecker, J. Baets, L. Heytens, 2019, Anaesthesia and intensive care.

Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation

J. D. De Bleecker, J. Baets, W. Verbrugghe, 2017, World journal of critical care medicine.

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

J. Baets, Liedewei Van de Vondel, J. De Winter, 2022, Frontiers in Molecular Neuroscience.

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.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, A. D’Amico, 2020, Molecular therapy. Methods & clinical development.

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

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

Mutations in SACS cause atypical and late-onset forms of ARSACS

W. Robberecht, P. van Damme, L. de Meirleir, 2010, Neurology.

CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells

T. Pan, Sheng Li, Zaneta Matuszek, 2019, Proceedings of the National Academy of Sciences.

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse

V. Timmerman, J. Baets, R. Madrid, 2013, Neuromuscular Disorders.

Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia

T. Klockgether, B. Brais, P. Klivényi, 2022, medRxiv.

High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients

V. Straub, J. Baets, P. Jonghe, 2021, Neuromuscular Disorders.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

G. Worrell, M. Grossman, W. Seeley, 2015, Brain : a journal of neurology.

Limb girdle muscular dystrophy due to mutations in POMT2

D. MacArthur, M. Lek, K. Claeys, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

N. Voermans, E. Kamsteeg, H. Jungbluth, 2015, Neuromuscular Disorders.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

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

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

G. Nürnberg, P. Nürnberg, V. Timmerman, 2009, Nature Genetics.

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

T. Ferguson, T. Bird, S. Kaler, 2010, American journal of human genetics.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

D. Timmann, S. Züchner, D. Jokisch, 2016, Brain : a journal of neurology.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

D. Timmann, S. Züchner, A. Durr, 2016, Brain : a journal of neurology.

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

M. Wheeler, J. Taylor, Lin Guo, 2021, JCI insight.

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

H. J. Kim, M. Wheeler, J. Taylor, 2021, medRxiv.

Defects in Axonal Transport in Inherited Neuropathies

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

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.

The expanding genetic landscape of hereditary motor neuropathies.

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

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

S. Züchner, R. Schüle, A. Schenck, 2018, Brain : a journal of neurology.

Distinct features in adult polyglucosan body disease: a case series

T. Deconinck, J. Baets, S. Dekeyzer, 2022, Neuromuscular Disorders.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

D. Pareyson, M. Reilly, P. de Jonghe, 2015, The Cochrane database of systematic reviews.

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Peter Nürnberg, Janine Altmüller, Joachim Weis, 2013, Nature Genetics.

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

J. Holton, B. Küsters, N. Voermans, 2019, 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.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

C. Blackstone, T. Strom, J. Zidar, 2011, American journal of human genetics.

Inherited peripheral neuropathies: a myriad of genes and complex phenotypes.

V. Timmerman, J. Baets, 2011, Brain : a journal of neurology.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Syed Ali Raza Kazmi, M. Göpfert, M. Oti, 2017, Disease Models & Mechanisms.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

T. Wieland, T. Strom, V. Timmerman, 2014, Journal of Neurology.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

S. Züchner, M. Synofzik, T. Stojkovic, 2022, European journal of neurology.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

P. Tsai, Yi-Chung Lee, S. Züchner, 2017, Brain : a journal of neurology.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

Recent advances in Charcot-Marie-Tooth disease.

V. Timmerman, P. de Jonghe, J. Baets, 2014, Current opinion in neurology.

Early onset (childhood) monogenic neuropathies.

P. Landrieu, J. Baets, 2013, Handbook of clinical neurology.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Defects of mutant DNMT I are linked to a spectrunru of neurstr $ gical dls * rder " s

M. Grossman, P. Bergh, M. Botuyan, 2016 .

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

D. MacArthur, M. Lek, K. Claeys, 2018, Skeletal Muscle.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

B. Bergmans, C. Broeckhoven, S. Engelborghs, 2017, Neurobiology of Aging.

A novel AARS mutation in a family with dominant myeloneuropathy

S. Scherer, A. Antonellis, P. de Jonghe, 2015, Neurology.

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation

L. Eichinger, A. Azmi, A. Hofmann, 2019, Neurology.

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency

G. Caravias, V. Straub, K. Visuttijai, 2019, Neuromuscular Disorders.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

B. Asselbergh, I. Nelson, A. Boland, 2019, Neurology: Genetics.

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2017, JAMA neurology.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

T. Pierson, C. Toro, D. Mazza, 2019, Journal of Medical Genetics.

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28

E. Rugarli, P. Parizel, W. van Hecke, 2014, Neurology.

An extensive spinal epidural abscess successfully treated conservatively

M. Plazier, J. Baets, J. van Bergen, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

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

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

Opsoclonus-myoclonus syndrome: a clinicopathological confrontation.

J. Baets, K. Smets, P. Pals, 2006, Acta neurologica Belgica.

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

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

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

E. Puffenberger, K. Strauss, B. Wirth, 2020, The American Journal of Human Genetics.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis

D. Papanicolaou, V. S. Williams, L. Tankó, 2020, Neurology.

Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2011 .

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

B. Asselbergh, V. Kimonis, V. Mouly, 2023, Autophagy.

Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

J. Statland, M. Pasnoor, J. Verschuuren, 2021, The Lancet Neurology.

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis

J. Baets, U. Yiş, S. Kavukçu, 2014, Acta Neurologica Belgica.

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

V. Timmerman, J. Baets, S. Kilic, 2009, neurogenetics.

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.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

ARSACS cause atypical and late-onset forms of SACS Mutations in

W. Robberecht, P. Bergh, K. Dahan, 2010 .

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

C. Verfaillie, R. Horvath, D. Pareyson, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Molecular Diagnosis of Ataxias and Spastic Paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

R. Finkel, M. Shy, C. Siskind, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

C. Broeckhoven, S. Engelborghs, R. Vandenberghe, 2018, Neurobiology of Aging.

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

S. Seneca, A. Vanlander, T. Deconinck, 2016, Mitochondrion.

Cerebellar ataxia in progressive supranuclear palsy: a clinico-pathological case report

P. Parizel, A. Sieben, S. Ceyssens, 2021, Acta Neurologica Belgica.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

P. Deyn, C. Broeckhoven, S. Engelborghs, 2021, Neurobiology of Disease.

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

S. Züchner, B. Bender, R. Schüle, 2017, Orphanet Journal of Rare Diseases.

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

J. Shorter, S. Janssens, B. Dermaut, 2023, Acta Neuropathologica.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

D. MacArthur, M. Lek, T. Mongini, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

D. Timmann, R. Schüle, L. Schöls, 2021, Frontiers in Neurology.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

D. Papanicolaou, V. S. Williams, P. Bergh, 2019, The Lancet Neurology.

Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

A. Schenck, E. Kamsteeg, Ilse Eidhof, 2020, Brain.

Assessment of Sacsin Turnover in Patients With ARSACS

F. Santorelli, S. Biffo, J. Baets, 2021, Neurology.

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

P. van Damme, K. Claeys, S. Fieuws, 2020, Orphanet Journal of Rare Diseases.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype

V. Mouly, T. Deconinck, V. Straub, 2023, Neuromuscular Disorders.

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.

P. van Damme, W. Spileers, M. Synofzik, 2020, Brain : a journal of neurology.

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

B. Asselbergh, V. Timmerman, L. Van Den Bosch, 2022, Brain : a journal of neurology.

Tempering our metrics

V. Lawson, J. Baets, 2020, Neurology.

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

J. Baets, L. Negrão, J. Caetano, 2014, Pediatric neurology.

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

K. Devriendt, E. Lerut, T. Deconinck, 2013, Neurology.

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

D. Timmann, L. Schöls, P. Klivényi, 2023, Movement disorders : official journal of the Movement Disorder Society.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

Nonalcoholic Fatty Liver

J. Utikal, S. Goerdt, M. Zeviani, 2018 .

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

S. Züchner, E. Ortibus, J. Baets, 2022, Annals of Neurology.

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.

Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

I. Katona, B. Sellhaus, J. Weis, 2023, Brain pathology.

Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2010, European journal of neurology.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

S. Züchner, P. Bauer, R. Schüle, 2019, Brain : a journal of neurology.

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis

J. Baets, U. Yiş, S. Kavukçu, 2015, Acta Neurologica Belgica.

A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium

K. Claeys, J. D. De Bleecker, Sébastien Tilleux, 2023, Acta Neurologica Belgica.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

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