Lista de obras - Jan Senderek - Dominio Público Uruguay

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

artículo científico publicado en 2004

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

artículo científico publicado en 2015

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability

artículo científico publicado en 2012

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

artículo científico publicado en 2015

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

article

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa

artículo científico publicado en 2001

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

artículo científico publicado en 2003

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany

artículo científico publicado en 2001

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

artículo científico publicado en 2007

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

artículo científico publicado en 2016

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

artículo científico publicado en 2005

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

artículo científico publicado en 2002

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

artículo científico publicado en 2010

Autosomal recessive polycystic kidney disease (ARPKD)

scientific article published on 01 May 2003

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

artículo científico publicado en 2007

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

artículo científico publicado en 2013

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

artículo científico publicado en 2009

Becker muscular dystrophy combined with x-linked Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2000

Behr syndrome with homozygous C19ORF12 mutation

artículo científico publicado en 2015

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

scientific article published on 01 April 2000

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E

article

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

artículo científico publicado en 2006

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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

artículo científico publicado en 2015

Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease

artículo científico publicado en 2006

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

artículo científico publicado en 2015

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

artículo científico publicado en 2017

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

article published in 2010

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

artículo científico publicado en 2013

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

artículo científico publicado en 2011

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

artículo científico publicado en 2008

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

artículo científico publicado en 2006

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum

artículo científico publicado en 2014

Hereditary Neuropathies: Update 2017

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

artículo científico publicado en 2011

Hypertrophic nerve roots in a case of Roussy-Lévy syndrome.

artículo científico publicado en 2002

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

artículo científico publicado en 2002

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

artículo científico publicado en 2016

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome

artículo científico publicado en 2017

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

artículo científico publicado en 2015

Light Microscopic, Immunohistochemical, and Ultrastructural Findings in Congenital Fibular Aplasia or Hypoplasia (FAH)

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

artículo científico publicado en 2015

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

artículo científico publicado en 2008

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

artículo científico publicado en 2003

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

article

Molecular characterization of congenital myasthenic syndromes in Spain.

artículo científico publicado en 2017

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

artículo científico publicado en 2012

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).

artículo científico publicado en 2005

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

artículo científico publicado en 2017

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

artículo científico publicado en 2005

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

artículo científico publicado en 2003

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

artículo científico publicado en 2014

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

artículo científico publicado en 2012

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2003

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

artículo científico publicado en 2004

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

article

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

article

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

artículo científico publicado en 2012

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

artículo científico publicado en 2013

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)

artículo científico publicado en 2006

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

artículo científico publicado en 2004

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

artículo científico publicado en 2003

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathy

article

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

artículo científico publicado en 2004

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

artículo científico publicado en 2004

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

artículo científico publicado en 2002

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

artículo científico publicado en 2013

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

artículo científico publicado en 2007

Phenotype of matrin-3-related distal myopathy in 16 German patients

artículo científico publicado en 2014

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain

artículo científico publicado en 2001

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

artículo científico publicado en 2013

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

artículo científico publicado en 2017

Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA.

artículo científico publicado en 2009

RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.

artículo científico publicado en 2007

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

scientific journal article

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy

artículo científico publicado en 2015

Reduced folate transport to the CNS in female Rett patients

artículo científico publicado en 2003

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

artículo científico publicado en 2010

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

artículo científico publicado en 2009

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

artículo científico publicado en 2013

SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India

artículo científico publicado en 2014

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

artículo científico publicado en 2011

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Small Rho GTPases are key regulators of peripheral nerve biology in health and disease.

artículo científico publicado en 2008

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

artículo científico publicado en 2003

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

article

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

artículo científico publicado en 2006

The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis

artículo científico publicado en 2016

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.

artículo científico publicado en 2007

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

artículo científico publicado en 2010

Towards a functional pathology of hereditary neuropathies

artículo científico publicado en 2016

Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation

artículo científico publicado en 2003

Vascular changes in the periosteum of congenital pseudarthrosis of the tibia

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

artículo científico

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

artículo científico publicado en 1999

Lista de obras de Jan Senderek

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Autosomal recessive polycystic kidney disease (ARPKD)

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

Becker muscular dystrophy combined with x-linked Charcot-Marie-Tooth neuropathy

Behr syndrome with homozygous C19ORF12 mutation

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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

Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum

Hereditary Neuropathies: Update 2017

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Hypertrophic nerve roots in a case of Roussy-Lévy syndrome.

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

Light Microscopic, Immunohistochemical, and Ultrastructural Findings in Congenital Fibular Aplasia or Hypoplasia (FAH)

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

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

Molecular characterization of congenital myasthenic syndromes in Spain.

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

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

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathy

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

Phenotype of matrin-3-related distal myopathy in 16 German patients

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA.