C. Beetz

发表

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

A. Durr, S. Forlani, A. Brice, 2009, Brain : a journal of neurology.

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

A. Audhya, G. Nürnberg, P. Nürnberg, 2013, Proceedings of the National Academy of Sciences.

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

C. Redies, V. Álvarez, A. Irintchev, 2013, The Journal of clinical investigation.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

M. Damme, Birgit Hoffmann, C. Biskup, 2015, PLoS genetics.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Martin W. Breuss, A. Pagnamenta, P. Bauer, 2020, European Journal of Human Genetics.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

K. Kandaswamy, W. Reardon, P. Bauer, 2020, European journal of human genetics : EJHG.

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

J. Lippincott-Schwartz, J. Winkler, B. Winner, 2017, The Journal of cell biology.

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.

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

M. Synofzik, C. Beetz, J. Schicks, 2011, Clinical genetics.

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

T. Nägele, P. Bauer, L. Schöls, 2011, Journal of Medical Genetics.

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

A. Durr, P. Bauer, L. Schöls, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both components

U. Hanisch, C. Beetz, T. Deufel, 2007, Neurosurgical Review.

Interleukin-4-Inducing Principle from Schistosoma mansoni Eggs Contains a Functional C-Terminal Nuclear Localization Signal Necessary for Nuclear Translocation in Mammalian Cells but Not for Its Uptake

B. Everts, A. Jones, S. Stolnik, 2011, Infection and Immunity.

Expression of ether à go-go potassium channels in human gliomas

R. Kraft, S. Heinemann, C. Beetz, 2004, Neuroscience Letters.

Expression of voltage-gated potassium channels Kv1.3 and Kv1.5 in human gliomas

S. Wölfl, R. Kraft, C. Beetz, 2003, Neuroscience Letters.

Rapid Large-Scale COVID-19 Testing during Shortages

K. Kandaswamy, P. Bauer, A. Rolfs, 2020, Diagnostics.

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults

D. Evans, M. McCabe, J. Kilday, 2017, JAMA neurology.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

D. Evans, A. Samii, D. Halliday, 2015, Neurology.

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

R. Hevner, W. Hickey, J. Kilday, 2014, The Journal of pathology.

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

M. Bastmeyer, C. Beetz, T. Deufel, 2004, Biochemical and biophysical research communications.

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

V. Álvarez, E. Coto, J. Infante, 2013, Clinical genetics.

Molecular characterization of voltage-gated sodium channels in human gliomas

S. Wölfl, R. Kraft, C. Beetz, 2002, Neuroreport.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Journal of the American Society of Nephrology : JASN.

Novel clinical and genetic insight into CXorf56-associated intellectual disability

K. Kandaswamy, W. Reardon, P. Bauer, 2019, European Journal of Human Genetics.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Andreas C. Themistocleous, T. Wieland, B. Schlotter-Weigel, 2016, American journal of human genetics.

Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients.

A. Rolfs, C. Beetz, D. Elstein, 2019, Blood cells, molecules & diseases.

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

P. Bauer, N. Brüggemann, N. Ameziane, 2020, Movement disorders : official journal of the Movement Disorder Society.

Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

A. Wierzbicki, T. Reynolds, C. Beetz, 2021, International journal of clinical practice.

ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

P. Bauer, A. Bertoli-Avella, C. Beetz, 2020, Clinical genetics.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

P. Bauer, A. Rolfs, T. Ben-Omran, 2019, Orphanet Journal of Rare Diseases.

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

A. El-Amraoui, K. Alagramam, T. Haaf, 2020, bioRxiv.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

H. Mefford, A. Paetau, P. Striano, 2022, Brain : a journal of neurology.

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif

C. Beetz, C. Hübner, S. Biskup, 2018, Human mutation.

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

K. Kandaswamy, P. Bauer, A. Rolfs, 2022, Orphanet Journal of Rare Diseases.

Isoform‐specific increase of spastin stability by N‐terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

C. Beetz, T. Deufel, T. Klopstock, 2007, European journal of neurology.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

T. Wieland, T. Strom, T. Pieber, 2012, American journal of human genetics.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

J. Pilch, C. Beetz, M. Rudzińska, 2015, Journal of the Neurological Sciences.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

V. Álvarez, E. Coto, J. Rosell, 2010, BMC neurology.

Mutational spectrum of the SPG 4 ( SPAST ) and SPG 3 A ( ATL 1 ) genes in Spanish patients with hereditary spastic paraplegia

V. Álvarez, E. Coto, J. Rosell, 2010 .

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

P. Bauer, V. Sutton, N. Ameziane, 2019, Clinical genetics.

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

J. Jankovic, P. Hogarth, B. George, 2019, Molecular genetics & genomic medicine.

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

S. Klebe, R. Schüle, L. Schöls, 2015, Orphanet Journal of Rare Diseases.

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

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

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

M. Zatz, A. Pessoa, C. Beetz, 2007, European Journal of Human Genetics.

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

F. Zimprich, W. Löscher, C. Beetz, 2020, Journal of clinical medicine.

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

A. Rolfs, C. Beetz, S. Revel-Vilk, 2022, International journal of molecular sciences.

[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].

C. Beetz, S. Illarioshkin, T. Proskokova, 2019, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

P. Bauer, A. Bertoli-Avella, E. Faqeih, 2021, Frontiers in Pediatrics.

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

W. Newman, C. Beetz, K. Tylee, 2016, Human Genome Variation.

GGPS1 ‐associated muscular dystrophy with and without hearing loss

F. Muntoni, R. Maroofian, H. Houlden, 2022, Annals of clinical and translational neurology.

Control of foot differentiation in Hydra: in vitro evidence that the NK-2 homeobox factor CnNK-2 autoregulates its own expression and uses pedibin as target gene

A. Till, T. Bosch, C. Beetz, 2004, Mechanisms of Development.

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family.

C. Beetz, Rita-Eva Varga, M. Kiehntopf, 2012, Gene.

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

D. Parkhomchuk, J. Hentschel, H. Peters, 2016, Gene.

Genetic characterization of the Albanian Gaucher disease patient population

P. Bauer, A. Rolfs, C. Beetz, 2020, JIMD reports.

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

P. Bauer, A. Rolfs, U. Grittner, 2020, International journal of molecular sciences.

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

L. Schöls, C. Biskup, M. Kessels, 2013, PLoS genetics.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

K. Kandaswamy, P. Bauer, F. Alkuraya, 2021, Genetics in Medicine.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia

M. Simpson, M. Patton, R. Trembath, 2016, Human mutation.

A novel homozygous variant in the TRAPPC9 gene causing intellectual disability and autism Spectrum disorder

P. Bauer, A. Rolfs, C. Beetz, 2020 .

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification

A. Lang, P. Pramstaller, P. Vieregge, 2007, Movement disorders : official journal of the Movement Disorder Society.

LRIG2 mutations cause urofacial syndrome.

Jonathan E. Dickerson, B. Gener, W. Newman, 2013, American journal of human genetics.

Urinary tract effects of HPSE2 mutations.

H. Cordell, D. Barton, W. Newman, 2015, Journal of the American Society of Nephrology : JASN.

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

D. Evans, W. Newman, S. Bhaskar, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease

C. Beetz, Nour Albesher, Manal A. Alaamery, 2021, Genes.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

R. Pfundt, J. Hurst, A. V. D. van den Ouweland, 2017, European Journal of Human Genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas

S. Wölfl, C. Beetz, T. Deufel, 2004, Clinical chemistry and laboratory medicine.

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.

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas

C. Beetz, T. Deufel, R. Kalff, 2008, Journal of Neuro-Oncology.

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

C. Lelliott, J. Mellor, J. Lerch, 2022, Biological Psychiatry.

A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

A. El-Hattab, C. Beetz, Ruslan Al-Ali, 2022, Clinical genetics.

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A. El-Amraoui, K. Alagramam, T. Haaf, 2021, Human genetics.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

P. Bauer, N. Ameziane, A. Bertoli-Avella, 2020, npj Genomic Medicine.

A polymorphic Alu insertion that mediates distinct disease-associated deletions

C. Beetz, T. Deufel, A. Erichsen, 2016, European Journal of Human Genetics.

Doublet‐Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

S. Zuchner, C. Beetz, W. Emberger, 2017, Human mutation.

Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytoma.

S. Brodoehl, C. Beetz, T. Deufel, 2005, Oncology reports.

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

M. Sylvester, I. Ganley, C. Beetz, 2021, Autophagy.

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.

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Gloria L. Porras-Hurtado, J. Vincent, Hiba Mohammed, 2021, European Journal of Human Genetics.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, Brain : a journal of neurology.

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

C. Beetz, T. Deufel, C. Hübner, 2014, Human mutation.

Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant

C. Beetz, M. Zaki, M. Issa, 2020, American journal of medical genetics. Part A.

The importance of genetic testing for dystonia patients and translational research

C. Beetz, A. Westenberger, J. Pozojevic, 2021, Journal of Neural Transmission.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

K. Xia, B. Peterlin, R. Maroofian, 2020, Human Genetics.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

A. Rolfs, C. Beetz, L. Abbasi-Moheb, 2019, Journal of Human Genetics.

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Clinical genetics.

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Ø. Braaten, C. Beetz, F. Wijburg, 2019, Molecular genetics & genomic medicine.

Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology.

S. Brodoehl, C. Beetz, T. Deufel, 2006, International journal of oncology.

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation

A. Bertoli-Avella, C. Beetz, B. Popescu, 2021, Neurocase.

Methylation-specific multiplex ligation-dependent probe amplification and its impact on clinical findings in medulloblastoma

C. Beetz, R. Kalff, J. Walter, 2013, Journal of Neuro-Oncology.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

A. Rolfs, C. Beetz, S. Revel-Vilk, 2023, International journal of molecular sciences.

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

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

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions

A. Bertoli-Avella, A. Rolfs, C. Beetz, 2023, Movement disorders : official journal of the Movement Disorder Society.

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

C. Beetz, Rita-Eva Varga, Rizwan Mumtaz, 2012, Analytical biochemistry.

Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

C. Beetz, J. Mascherbauer, R. Windhager, 2018, Molecular and cellular probes.

Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones.

C. Beetz, C. Hübner, J. Hennings, 2015, Analytical biochemistry.

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

D. Timmann, P. Striano, J. Goraya, 2020, Brain : a journal of neurology.

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

S. Achenbach, A. Skrahin, A. Rolfs, 2021, Annals of medicine.

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

S. Klebe, R. Schüle, L. Schöls, 2009, neurogenetics.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

O. Witte, R. Schüle, L. Schöls, 2006, Neurology.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

P. Seeman, C. Beetz, D. Stejskal, 2016, Journal of Human Genetics.

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

S. Klebe, A. Durr, P. Bauer, 2010, European Journal of Human Genetics.

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

S. Klebe, R. Schüle, L. Schöls, 2008, Journal of the Neurological Sciences.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

M. Pericak-Vance, A. Ashley-Koch, M. Hutchinson, 2007, Human mutation.

Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

R. Schüle, V. Álvarez, Michael A. Gonzalez, 2013, Human mutation.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

A. Durr, R. Schüle, L. Schöls, 2018, Brain : a journal of neurology.

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

E. Reid, C. Beetz, T. Deufel, 2007, Neurogenetics.

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

C. Beetz, J. Plaschke, P. Zacher, 2014, Journal of the Neurological Sciences.

Dementia in SPG4 hereditary spastic paraplegia

M. Hutchinson, P. Byrne, K. Kinsella, 2009, Neurology.

neuropathologic evidence Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and

M. Hutchinson, P. Byrne, K. Kinsella, 2010 .

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

R. Weksberg, T. Meitinger, N. Boddaert, 2022, Human molecular genetics.

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

P. Bauer, H. Galehdari, R. Maroofian, 2020, Journal of Medical Genetics.

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

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

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

C. Walsh, P. Bauer, A. Barkovich, 2021, Genetics in Medicine.

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

D. Timmann, M. Ferrari, P. Striano, 2020, American journal of human genetics.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

A. Pagnamenta, P. Bauer, Jenny C. Taylor, 2020, American journal of human genetics.

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

P. Bauer, R. Heller, P. Ray, 2016 .

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

P. Bauer, R. Heller, P. Ray, 2016, Human mutation.

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

A. Metspalu, F. Canzian, C. Beetz, 2010, BMC Neurology.

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

K. Kandaswamy, P. Bauer, A. Bertoli-Avella, 2019, Clinical Genetics.

Prevalence of Fabry Disease among Patients with Parkinson's Disease

H. Houlden, C. Beetz, M. Rizig, 2022, Parkinson's disease.

Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

P. Bauer, A. Rolfs, C. Beetz, 2019, Molecular genetics and metabolism reports.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

S. Rudnik-Schöneborn, W. Löscher, P. Andersen, 2022, Journal of Medical Genetics.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

P. Bauer, A. Rolfs, C. Beetz, 2019, Journal of Human Genetics.

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

K. Kandaswamy, P. Bauer, N. Ameziane, 2021, Movement disorders : official journal of the Movement Disorder Society.

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.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Chaim A. Schramm, J. Kelsen, C. Deswarte, 2024, Science.

Dementia in SPG4 hereditary spastic paraplegia

P. Byrne, K. Kinsella, C. Beetz, 2009, Neurology.

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

A. Rolfs, U. Grittner, C. Beetz, 2023, Diagnostics.