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PubPharm (70)
1
Early Onset Inherited Peripheral Neuropathies : The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
enthalten in:
Pediatric neurology
| 2024
von
Geroldi, A.
|
Ponti, C.
|
Mammi, A.
| +16
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2
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
enthalten in:
Brain : a journal of neurology
| 2024
von
Currò, R.
|
Dominik, N.
|
Facchini, S.
| +152
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3
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2023
von
Geroldi, A.
|
Tozza, S.
|
Fiorillo, C.
| +21
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4
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy : Data from the National CMT Registry
enthalten in:
European journal of neurology
| 2023
von
Pisciotta, C.
|
Bertini, A.
|
Tramacere, I.
| +31
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5
Skeletal muscle involvement in biallelic SORD mutations : case report and review of the literature
enthalten in:
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
| 2023
von
Massucco, S.
|
Gemelli, C.
|
Bellone, E.
| +12
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6
Respiratory involvement and sleep-related disorders in CMT1A : case report and review of the literature
enthalten in:
Frontiers in neurology
| 2023
von
Massucco, S.
|
Schenone, C.
|
Faedo, E.
| +8
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7
Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy : Data from the National CMT Registry
enthalten in:
European Journal of Neurology
| 2023
von
Pisciotta, C.
|
Bertini, A.
|
Tramacere, I.
| +30
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8
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
enthalten in:
Neuropathology and applied neurobiology
| 2022
von
Fiorillo, C.
|
Capodivento, G.
|
Geroldi, A.
| +28
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9
A misleading presentation of Mohr-Tranebjaerg syndrome : What is hidden behind an axonal neuropathy?
enthalten in:
Parkinsonism & related disorders
| 2022
von
Geroldi, A.
|
Trevisan, L.
|
Gaudio, A.
| +10
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10
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
enthalten in:
Scientific reports
| 2022
von
Abati, E.
|
Manini, A.
|
Velardo, D.
| +10
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Medienart: E-Ressourcen
Medienart
70
Aufsätze
70
E-Artikel
E-Ressourcen
Zeitschriftentitel
8
Journal of the peripheral nervous system : JPNS
3
Amyotrophic lateral sclerosis : official public...
3
Cerebellum & ataxias
3
Journal of genetic counseling
3
Journal of neurology
2
Amyotrophic lateral sclerosis & frontotemporal ...
2
Brain : a journal of neurology
2
Frontiers in neurology
2
Human mutation
2
Journal of the Peripheral Nervous System
2
Neurological sciences
2
Neuromuscular disorders : NMD
2
Orphanet journal of rare diseases
1
Acta myologica : myopathies and cardiomyopathie...
1
American journal of medical genetics. Part A
1
American journal of physical medicine & rehabil...
1
Annals of Human Genetics
1
Annals of human genetics
1
Annals of neurology
1
Annals of physical and rehabilitation medicine
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Thema
43
Journal Article
20
Case Reports
16
Research Support, Non-U.S. Gov't
8
Letter
6
CMT
6
neuropathy
4
Amyotrophic lateral sclerosis
4
Charcot-Marie-Tooth disease
4
HSP27 Heat-Shock Proteins
4
HSPB1 protein, human
4
Heat-Shock Proteins
4
Molecular Chaperones
4
Myelin P0 Protein
4
Myelin Proteins
4
PMP22 protein, human
4
Proteins
3
CMT1A
3
CMT2
3
DNA-Binding Proteins
3
Genetic counseling
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Erscheinungszeitraum
69
2000-
1
1900-1999
Erscheinungsjahr(e)
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65
Englisch
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