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Orphanet Journal of Rare Diseases
|
October 14, 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, et al.
Neurology
|
January 18, 2024
Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure
Melissa R Mandarakas, Katy J Eichinger, Paula Bray, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 14, 2005
Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier
Simona Occhi, Desirée Zambroni, Ubaldo Del Carro, et al.
Brain : a Journal of Neurology
|
March 25, 2016
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease
William W Motley, Paulius Palaima, Sabrina W Yum, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
August 3, 2022
Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series
Adam M Kruszewski, Zujaja Tauqeer, Elana A Meer, et al.
Neurology
|
August 4, 2017
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Francis B Panosyan, Matilde Laura, Alexander M Rossor, et al.
Brain : a Journal of Neurology
|
March 22, 2023
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
Tyler Rehbein, Tong Tong Wu, Simona Treidler, et al.
Elife
|
May 29, 2020
<i>TUBB4A</i> mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model
Sunetra Sase, Akshata A Almad, C Alexander Boecker, et al.
The Journal of Clinical Investigation
|
September 18, 2018
Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment
Denise E Allard, Yan Wang, Jian Joel Li, et al.
Annals of Neurology
|
March 10, 2011
Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia
Eric Lancaster, Maartje G M Huijbers, Vered Bar, et al.
Page
of 16
Search research articles
Search
Showing results (121-130 of 159) with videos related to
Sort By:
Page
of 16
Orphanet Journal of Rare Diseases
|
October 14, 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, et al.
Neurology
|
January 18, 2024
Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure
Melissa R Mandarakas, Katy J Eichinger, Paula Bray, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 14, 2005
Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier
Simona Occhi, Desirée Zambroni, Ubaldo Del Carro, et al.
Brain : a Journal of Neurology
|
March 25, 2016
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease
William W Motley, Paulius Palaima, Sabrina W Yum, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
August 3, 2022
Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series
Adam M Kruszewski, Zujaja Tauqeer, Elana A Meer, et al.
Neurology
|
August 4, 2017
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Francis B Panosyan, Matilde Laura, Alexander M Rossor, et al.
Brain : a Journal of Neurology
|
March 22, 2023
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
Tyler Rehbein, Tong Tong Wu, Simona Treidler, et al.
Elife
|
May 29, 2020
<i>TUBB4A</i> mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model
Sunetra Sase, Akshata A Almad, C Alexander Boecker, et al.
The Journal of Clinical Investigation
|
September 18, 2018
Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment
Denise E Allard, Yan Wang, Jian Joel Li, et al.
Annals of Neurology
|
March 10, 2011
Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia
Eric Lancaster, Maartje G M Huijbers, Vered Bar, et al.
Page
of 16