List of works - Steven S. Scherer

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

scientific article published on 01 January 2019

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

scientific article

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

scientific article

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes ⬇️

scientific article published on March 4, 2011

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

scientific article published on 11 February 2020

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

scientific article published on 17 January 2018

A new mutation in GJC2 associated with subclinical leukodystrophy

scientific article

A novel AARS mutation in a family with dominant myeloneuropathy

scientific article published on 22 April 2015

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

scientific article published on 21 December 2018

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

scientific article published on December 2009

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

scientific article

A recessive Trim2 mutation causes an axonal neuropathy in mice

scientific article published on 20 March 2020

Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis

scientific article

Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions

scientific article

Acute demyelination disrupts the molecular organization of peripheral nervous system nodes

scientific article published on 01 November 2004

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

scientific article published in February 2005

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 26 May 2020

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

scientific article published on 01 April 2019

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

scientific article

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 04 May 2020

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

scientific article published on October 2005

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

scientific article

Caspr2 autoantibodies target multiple epitopes.

scientific article

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

scientific article

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy

scientific article published on 2 January 2016

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

scientific article

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

scientific article

Connexins are critical for normal myelination in the CNS.

scientific article

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

scientific article

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct

scientific article published on April 2008

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

scientific article

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

scientific article published on 23 March 2016

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

scientific article published on 11 February 2015

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells

scientific article

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

scientific article published on 01 October 2002

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26 ⬇️

scientific article published on October 30, 2010

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

scientific article published on 21 January 2010

ErbB2 signaling in Schwann cells is mostly dispensable for maintenance of myelinated peripheral nerves and proliferation of adult Schwann cells after injury.

scientific article published in February 2006

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1) ⬇️

scientific article published on June 16, 2013

Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom

scientific article published on 01 November 2004

Gap junctions couple astrocytes and oligodendrocytes

scientific article

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

scientific article published on 01 October 2006

Genetic dysmyelination alters the molecular architecture of the nodal region

article

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

scientific article published on 28 March 2018

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

scientific article

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

scientific article

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants

scientific article

Identification of genes that are downregulated in the absence of the POU domain transcription factor pou3f1 (Oct-6, Tst-1, SCIP) in sciatic nerve

scientific journal article

Identification of novel cell-adhesion molecules in peripheral nerves using a signal-sequence trap

scientific article published in February 2006

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

scientific article published on 23 May 2015

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

scientific article published on 28 March 2016

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

scientific article

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

scientific article published on 31 July 2020

KCNQ2 is a nodal K+ channel.

scientific article published in February 2004

Kv3.1b is a novel component of CNS nodes

scientific journal article

Kv7.2 regulates the function of peripheral sensory neurons

scientific article published on 12 April 2014

Kv7.5 is the primary Kv7 subunit expressed in C‐fibers ⬇️

scientific article published on June 15, 2012

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

scientific article published on 10 January 2017

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

scientific article

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

scientific article

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

article

Molecular mechanisms of inherited demyelinating neuropathies

scientific article published on November 2008

Molecular organization of the nodal region is not altered in spontaneously diabetic BB‐Wistar rats

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

scientific article published in March 2018

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E

scientific article published on 22 June 2018

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

scientific article published in Nature Communications

National Institute of Neurological Disorders and Stroke (NINDS): advances in understanding and treating neuropathy, 24-25 October 2006; Bethesda, Maryland.

scientific article published on March 2008

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

scientific article published on 08 January 2021

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

scientific article published on 29 November 2017

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations

scientific article

Notch1 control of oligodendrocyte differentiation in the spinal cord

scientific journal article

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

scientific article published on 4 December 2017

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

scientific article published in January 2007

Paranodal permeability in "myelin mutants".

scientific article

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

scientific article published on 9 August 2017

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

scientific article published in August 2005

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

scientific article published on 20 June 2017

Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A

scientific article published on 01 February 2002

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

scientific journal article

Recent progress on the molecular organization of myelinated axons

scientific article

Recurrent duplication-driven transposition of DNA during hominoid evolution

scholarly article

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

scientific article

Schwann cell caveolin-1 expression increases during myelination and decreases after axotomy.

scientific article published in May 2002

Subtype-specific therapy for autoimmune neuropathies?

scientific article

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

scientific article published in February 2006

TGFbeta1 modulates the phenotype of Schwann cells at the transcriptional level

scientific article published in March 2002

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The effects of a dominant connexin32 mutant in myelinating Schwann cells

scientific article published on 21 June 2006

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

scientific article published on 01 February 2005

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

scientific article published in December 2007

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

scientific article

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

scientific article published on 22 February 2018

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

scientific article published on 01 March 2019

X-linked Charcot-Marie-Tooth disease

scientific article published on December 2012

List of works by Steven S. Scherer

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes ⬇️

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

A new mutation in GJC2 associated with subclinical leukodystrophy

A novel AARS mutation in a family with dominant myeloneuropathy

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

A recessive Trim2 mutation causes an axonal neuropathy in mice

Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis

Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions

Acute demyelination disrupts the molecular organization of peripheral nervous system nodes

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Caspr2 autoantibodies target multiple epitopes.

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

Connexins are critical for normal myelination in the CNS.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

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

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26 ⬇️

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

ErbB2 signaling in Schwann cells is mostly dispensable for maintenance of myelinated peripheral nerves and proliferation of adult Schwann cells after injury.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1) ⬇️

Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom

Gap junctions couple astrocytes and oligodendrocytes

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

Genetic dysmyelination alters the molecular architecture of the nodal region

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants

Identification of genes that are downregulated in the absence of the POU domain transcription factor pou3f1 (Oct-6, Tst-1, SCIP) in sciatic nerve

Identification of novel cell-adhesion molecules in peripheral nerves using a signal-sequence trap

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

KCNQ2 is a nodal K+ channel.

Kv3.1b is a novel component of CNS nodes

Kv7.2 regulates the function of peripheral sensory neurons

Kv7.5 is the primary Kv7 subunit expressed in C‐fibers ⬇️

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

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

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Molecular mechanisms of inherited demyelinating neuropathies

Molecular organization of the nodal region is not altered in spontaneously diabetic BB‐Wistar rats

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

National Institute of Neurological Disorders and Stroke (NINDS): advances in understanding and treating neuropathy, 24-25 October 2006; Bethesda, Maryland.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations

Notch1 control of oligodendrocyte differentiation in the spinal cord

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

Paranodal permeability in "myelin mutants".

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.