List of works - Jan Senderek

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

scientific article (publication date: May 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

scientific article published on 15 March 2002

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on January 2003

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

scientific article

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

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

article

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

scientific article

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

scientific article

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

scientific article published on May 2004

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

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

scientific article

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

scientific article published in September 2002

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

scientific article

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

scientific article published in April 2003

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

article

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

scientific article published on 01 August 2003

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

scientific article

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

scientific article published on 15 March 2013

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

scientific article (publication date: March 2003)

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

scientific article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

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

scientific article published in August 1999

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Reduced folate transport to the CNS in female Rett patients

scientific article published in August 2003

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

article

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

scientific article published on 2 January 2013

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

scientific article

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

scientific article published on 16 September 2014

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

scientific article

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

scientific article published on 21 December 2013

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

scientific article published on 11 February 2015

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

scientific article published on 30 October 2013

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

scientific article published in May 2004

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

scientific article

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

scientific article published on 17 August 2016

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

scientific article

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

scientific article published on March 2010

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

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

scientific article

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

scientific article published in October 2014

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

scientific article

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

scientific article

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.

scientific article

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

scientific article

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

scientific article published on May 1998

List of works by Jan Senderek

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

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

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

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

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

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

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

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

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

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

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

Transcriptional regulator PRDM12 is essential for human pain perception

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

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Reduced folate transport to the CNS in female Rett patients

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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