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PubPharm (127)
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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Human mutation
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Journal of the peripheral nervous system : JPNS
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neuropathy
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5
DNA-Binding Proteins
5
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5
Transcription Factors
4
CMT1A
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4
Genetic counseling
4
HSP27 Heat-Shock Proteins
4
HSPB1 protein, human
4
Heat-Shock Proteins
4
Molecular Chaperones
4
Myelin P0 Protein
4
Myelin Proteins
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