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List of works by Steven S. Scherer

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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
Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

scientific article published on 28 March 2016
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

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

scientific article published on October 30, 2010
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

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

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

scientific article published in May 2002
Caspr2 autoantibodies target multiple epitopes.

scientific article
De novo PMP2mutations in families with type 1 Charcot–Marie–Tooth disease

scientific article published on March 23, 2016
A novel AARS mutation in a family with dominant myeloneuropathy

scientific article published on April 22, 2015
TGFbeta1 modulates the phenotype of Schwann cells at the transcriptional level

scientific article published in March 2002
Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

scientific article published on 23 May 2015
Identification of novel cell-adhesion molecules in peripheral nerves using a signal-sequence trap

scientific article published in February 2006
Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

scientific article published on 29 November 2017
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

scientific article published in March 2018
Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions

scientific article published on June 4, 2015
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

scientific article published in Nature Communications
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

scientific article published on 10 January 2017
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
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

scientific article published on 01 March 2019
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
Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis

scientific article
Paranodal permeability in "myelin mutants".

scientific article
A new mutation in GJC2 associated with subclinical leukodystrophy

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

scientific article published on March 4, 2011
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

scientific article published on 9 August 2017
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

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

scientific article published on January 2, 2016
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

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

scientific article published on 22 February 2018
Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

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

scientific article published on 04 May 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
Genetic test utilization and diagnostic yield in adult patients with neurological disorders

scientific article published on 28 March 2018
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
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

scientific article published on 17 January 2018
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

scientific article published on 21 December 2018
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

scientific article published on 31 July 2020
Subtype-specific therapy for autoimmune neuropathies?

scientific article published on September 24, 2015
A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

scientific article published on 01 January 2019
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

scientific article published on 11 February 2020
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

article
A recessive Trim2 mutation causes an axonal neuropathy in mice

scientific article published on 20 March 2020
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

scientific article published on 01 April 2019
Molecular organization of the nodal region is not altered in spontaneously diabetic BB‐Wistar rats

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

scientific article published on 08 January 2021
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

scientific article published on 20 June 2017

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