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PubPharm (32)
1
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
enthalten in:
Annals of neurology
| 2024
von
Doherty, C.
|
Howard, P.
|
O'Donnell, L.
| +26
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2
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Doherty, C.
|
Morrow, J.
|
Zuccarino, R.
| +23
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3
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
enthalten in:
Brain : a journal of neurology
| 2024
von
Record, C.
|
Pipis, M.
|
Skorupinska, M.
| +11
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4
Digenic FLNA and UCHL1 variants resulting in a complex phenotype
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2024
von
Pernice, H.
|
O'Donnell, L.
|
Rossor, A.
| +7
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5
Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A : A proof of concept study
enthalten in:
Muscle & nerve
| 2024
von
Dudziec, M.
|
Lee, L.
|
Massey, C.
| +5
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6
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1,1B and2A
enthalten in:
Annals of Clinical and Translational Neurology
| 2024
von
Doherty, C.
|
Morrow, J.
|
Zuccarino, R.
| +23
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7
Home‐based multi‐sensory and proximal strengthening program to improve balance in Charcot–Marie–Tooth disease Type 1A : A proof of concept study
enthalten in:
Muscle & Nerve
| 2024
von
Dudziec, M.
|
Lee, L.
|
Massey, C.
| +5
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8
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
enthalten in:
Brain : a journal of neurology
| 2023
von
Lischka, A.
|
Eggermann, K.
|
Record, C.
| +79
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9
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2023
von
O'Donnell, L.
|
Pipis, M.
|
Thornton, J.
| +15
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10
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
enthalten in:
Brain : a journal of neurology
| 2023
von
Record, C.
|
Skorupinska, M.
|
Laura, M.
| +71
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Medienart
32
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31
E-Artikel
31
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Gedruckte Aufsätze
Zeitschriftentitel
6
Journal of neurology, neurosurgery, and psychiatry
5
Brain : a journal of neurology
3
Journal of the peripheral nervous system : JPNS
2
Journal of the Peripheral Nervous System
2
Muscle & nerve
2
Nature genetics
2
Neurology
1
Annals of Clinical and Translational Neurology
1
Annals of clinical and translational neurology
1
Annals of neurology
1
European journal of neurology
1
Genetics in medicine : official journal of the ...
1
Journal of neurology, neurosurgery and psychiatry
1
Muscle & Nerve
1
Obstetric medicine
1
Physiotherapy Research International
1
Physiotherapy research international : the jour...
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Thema
21
Journal Article
13
Research Support, Non-U.S. Gov't
10
Research Support, N.I.H., Extramural
4
Letter
3
Multicenter Study
2
Charcot-Marie-Tooth disease
2
Charcot–Marie–Tooth disease
2
MRI
2
NEUROPATHY
2
Observational Study
2
Randomized Controlled Trial
2
neurogenetics
2
neuromuscular
2
neuropathy
1
ACGS
1
ACMG
1
Saldo
1
CIP
1
CLINICAL NEUROLOGY
1
CMT
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Erscheinungszeitraum
27
2020-
5
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
27
Englisch
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