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X
Scherer, Steven S.
2028  Ergebnisse:
Personensuche X
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1

The Importance of Offering Exome or Genome Sequencing in Ad..:

Dratch, Laynie ; Bardakjian, Tanya M. ; Johnson, Kelsey...
Biology.  13 (2024)  2 - p. 93 , 2024
Link: https://doi.org/10.3390/..
 
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2

A study concept of expeditious clinical enrollment for gene..:

Xu, Isaac R. L. ; Danzi, Matt C. ; Ruiz, Ariel...
Journal of the Peripheral Nervous System.  , 2024
Link: https://doi.org/10.1111/..
 
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3

Multicenter Validation of the Charcot-Marie-Tooth Functiona..:

Mandarakas, Melissa R. ; Eichinger, Katy J. ; Bray, Paula...
Neurology.  102 (2024)  3 - p. , 2024
Link: https://doi.org/10.1212/..
 
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4

Functional evaluation of a CMT2DD-causing ATP1A1 variant:

Spontarelli, Kerri ; Scherer, Steven S. ; Bird, Shawn J...
Biophysical Journal.  123 (2024)  3 - p. 399a , 2024
Link: https://doi.org/10.1016/..
 
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5

Disparities in Genetic Testing for Neurologic Disorders:

Baldwin, Aaron ; Copeland, Juliette ; Azage, Meron...
Neurology.  102 (2024)  6 - p. , 2024
Link: https://doi.org/10.1212/..
 
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6

Knock-in mouse models for CMTX1 show a loss of function phe..:

Abrams, Charles K. ; Lancaster, Eunjoo ; Li, Jian J....
Experimental Neurology.  360 (2023)  - p. 114277 , 2023
Link: https://doi.org/10.1016/..
 
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7

Genetic analysis and natural history of Charcot-Marie-Tooth..:

Record, Christopher J ; Skorupinska, Mariola ; Laura, Matilde...
Brain.  146 (2023)  10 - p. 4336-4349 , 2023
Link: https://doi.org/10.1093/..
 
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8

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phen..:

Rehbein, Tyler ; Wu, Tong Tong ; Treidler, Simona...
Brain.  146 (2023)  9 - p. 3826-3835 , 2023
Link: https://doi.org/10.1093/..
 
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9

Genetic testing in adults with neurologic disorders: indica..:

Dratch, Laynie ; Azage, Meron ; Baldwin, Aaron...
Journal of Neurology.  271 (2023)  2 - p. 733-747 , 2023
Link: https://doi.org/10.1007/..
 
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10

Trials for Slowly Progressive Neurogenetic Diseases Need Su..:

Reilly, Mary M. ; Herrmann, David N. ; Pareyson, Davide...
Annals of Neurology.  93 (2023)  5 - p. 906-910 , 2023
Link: https://doi.org/10.1002/..
 
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11

Recruiting for an International Rare Disease Clinical Trial..:

Eichinger, Katy ; Behrens‐Spraggins, Steffen ; Sowden, Janet E....
Journal of the Peripheral Nervous System.  28 (2023)  3 - p. 528-529 , 2023
Link: https://doi.org/10.1111/..
 
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12

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (..:

Eichinger, Katy ; Sowden, Janet E. ; Burns, Joshua...
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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13

Disease Progression in Charcot–Marie–Tooth Disease Related ..:

Fridman, Vera ; Sillau, Stefan ; Bockhorst, Jacob...
Annals of Neurology.  93 (2022)  3 - p. 563-576 , 2022
Link: https://doi.org/10.1002/..
 
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14

HINT1 neuropathy in Lithuania: clinical, genetic, and funct..:

Malcorps, Matilde ; Amor-Barris, Silvia ; Burnyte, Birute...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
European Journal of Neurology.  30 (2022)  2 - p. 511-526 , 2022
Link: https://doi.org/10.1111/..
 
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