Search details
1.
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
Brain
; 2024 Mar 27.
Article
in English
| MEDLINE | ID: mdl-38538210
2.
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Ann Neurol
; 93(5): 906-910, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36891823
3.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Ann Neurol
; 93(3): 563-576, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36203352
4.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
J Peripher Nerv Syst
; 2024 Apr 05.
Article
in English
| MEDLINE | ID: mdl-38581130
5.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain
; 146(9): 3826-3835, 2023 09 01.
Article
in English
| MEDLINE | ID: mdl-36947133
6.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Article
in English
| MEDLINE | ID: mdl-37284795
7.
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
J Med Genet
; 60(6): 547-556, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36150828
8.
Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.
J Neurosci
; 42(25): 5085-5101, 2022 06 22.
Article
in English
| MEDLINE | ID: mdl-35589390
9.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36260368
10.
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Pediatr Nephrol
; 38(3): 687-695, 2023 03.
Article
in English
| MEDLINE | ID: mdl-35759000
11.
Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series.
J Neuroophthalmol
; 43(1): 48-54, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-35921552
12.
Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes.
Pharmacogenet Genomics
; 32(4): 159-172, 2022 06 01.
Article
in English
| MEDLINE | ID: mdl-35190513
13.
Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.
Genet Med
; 24(5): 1062-1072, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35331649
14.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29499166
15.
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Am J Med Genet A
; 185(10): 2922-2928, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34075706
16.
A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
J Peripher Nerv Syst
; 26(2): 184-186, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33844363
17.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33415332
18.
Optic Neuropathy in Charcot-Marie-Tooth Disease.
J Neuroophthalmol
; 41(2): 233-238, 2021 06 01.
Article
in English
| MEDLINE | ID: mdl-32441898
19.
A recessive Trim2 mutation causes an axonal neuropathy in mice.
Neurobiol Dis
; 140: 104845, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32205255
20.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Ann Neurol
; 85(3): 316-330, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30706531