Suchergebnisse - "Felice, Kevin J"

PubPharm (52)

1

RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

enthalten in: bioRxiv.org | 2024

von Ranta-aho, J. | Felice, K. | Jonson, P. | +17

2

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Ranta-Aho, J. | Felice, K. | Jonson, P. | +17

3

Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families : Presenting clinical features in an often-misdiagnosed disorder

enthalten in: Muscle & nerve | 2023

von Felice, K. | Whitaker, C.

4

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies : A retrospective single-site study

enthalten in: Muscle & nerve | 2021

von Felice, K. | Whitaker, C. | Khorasanizadeh, S.

5

Myotonic Muscular Dystrophy Type 2 in CT, USA : A Single-Center Experience With 50 Patients

enthalten in: Journal of clinical neuromuscular disease | 2021

von Roy, B. | Wu, Q. | Whitaker, C. | +1

6

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies : A retrospective single‐site study

enthalten in: Muscle & Nerve | 2021

von Felice, K. | Whitaker, C. | Khorasanizadeh, S.

7

Laing Myopathy : Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype

enthalten in: Journal of clinical neuromuscular disease | 2020

von Alessi, C. | Wu, Q. | Whitaker, C. | +1

8

Distal Myopathies

enthalten in: Neurologic clinics | 2020

von Felice, K.

9

Sensitivity and clinical utility of the anti-cytosolic 5'-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis : Report of 40 patients from a single neuromuscular center

enthalten in: Neuromuscular disorders : NMD | 2018

von Felice, K. | Whitaker, C. | Wu, Q. | +4

10

Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy : Case report and literature review of MTM1 manifesting female carriers

enthalten in: Neuromuscular disorders : NMD | 2018

von Felice, K. | Whitaker, C. | Wu, Q.

1
2
3
4
5
6
Nächster »
[6]