Lista de obras - Christian Beetz - Dominio Público Uruguay

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

scientific article published in 2021

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

artículo científico publicado en 2013

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

scientific article published on 24 December 2011

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

artículo científico publicado en 2019

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

scientific article published on 26 September 2007

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

artículo científico publicado en 2017

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

scientific article published on 26 November 2019

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

scientific article published on 16 October 2014

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

artículo científico publicado en 2007

A polymorphic Alu insertion that mediates distinct disease-associated deletions

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

scientific article published on 27 July 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

First HPSE2 missense mutation in urofacial syndrome

artículo científico publicado en 2011

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

scientific article published on 11 October 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

scientific journal article

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2007

LRIG2 mutations cause urofacial syndrome

artículo científico publicado en 2013

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

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

artículo científico publicado en 2011

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas

artículo científico publicado en 2008

Molecular characterization of voltage-gated sodium channels in human gliomas

artículo científico publicado en 2002

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

scientific article published on 17 October 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Novel clinical and genetic insight into CXorf56-associated intellectual disability

scientific article published on 10 December 2019

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

artículo científico publicado en 2008

Rapid Large-Scale COVID-19 Testing During Shortages

artículo científico publicado en 2020

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

scientific article published on 01 September 2007

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

artículo científico publicado en 2004

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

scientific journal article

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

scientific article published on 14 December 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Urinary tract effects of HPSE2 mutations

artículo científico publicado en 2014

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

scientific article published on 26 December 2019

Lista de obras de Christian Beetz

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

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

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

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

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

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

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

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

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

A polymorphic Alu insertion that mediates distinct disease-associated deletions

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

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

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

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

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

First HPSE2 missense mutation in urofacial syndrome

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

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

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

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

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

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

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

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

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

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

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.

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

LRIG2 mutations cause urofacial syndrome

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

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

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

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

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas

Molecular characterization of voltage-gated sodium channels in human gliomas

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

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

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

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

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

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

Novel clinical and genetic insight into CXorf56-associated intellectual disability

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

Rapid Large-Scale COVID-19 Testing During Shortages

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

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

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

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

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

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

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

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

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

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

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

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

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

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).

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

Urinary tract effects of HPSE2 mutations

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