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PubPharm (26)
1
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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2
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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3
RFC1 expansions are a common cause of idiopathic sensory neuropathy
enthalten in:
Brain : a journal of neurology
| 2021
von
Currò, R.
|
Salvalaggio, A.
|
Tozza, S.
| +38
CommentIn: Brain. 2021 Jun 22;144(5):1291-1292. - PMID 33983437
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4
Expanding the spectrum of genes responsible for hereditary motor neuropathies
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2019
von
Previtali, S.
|
Zhao, E.
|
Lazarevic, D.
| +28
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5
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"
enthalten in:
Orphanet journal of rare diseases
| 2018
von
Grandis, M.
|
Geroldi, A.
|
Gulli, R.
| +12
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6
Role of MAPT in Pure Motor Neuron Disease : Report of a Recurrent Mutation in Italian Patients
enthalten in:
Neuro-degenerative diseases
| 2018
von
Origone, P.
|
Geroldi, A.
|
Lamp, M.
| +9
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7
Alternative Splicing in the Human PMP22 Gene : Implications in CMT1A Neuropathy
enthalten in:
Human mutation
| 2016
von
Visigalli, D.
|
Castagnola, P.
|
Capodivento, G.
| +6
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8
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype
enthalten in:
Neurocase
| 2015
von
Origone, P.
|
Accardo, J.
|
Verdiani, S.
| +7
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9
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease
enthalten in:
Journal of the neurological sciences
| 2014
von
Ciotti, P.
|
Luigetti, M.
|
Geroldi, A.
| +8
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10
Enlarging the clinical spectrum associated with C9orf 72 repeat expansions : findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling
enthalten in:
Amyotrophic lateral sclerosis & frontotemporal degeneration
| 2013
von
Origone, P.
|
Verdiani, S.
|
Ciotti, P.
| +5
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Thema: Research Support, Non-U.S. Gov't
Medienart
26
Aufsätze
16
E-Artikel
16
E-Ressourcen
10
Gedruckte Aufsätze
Zeitschriftentitel
2
Amyotrophic lateral sclerosis & frontotemporal ...
2
Amyotrophic lateral sclerosis : official public...
2
Movement disorders : official journal of the Mo...
2
Neurobiology of disease
1
American journal of medical genetics. Part B, N...
1
Annals of neurology
1
Brain : a journal of neurology
1
European journal of human genetics : EJHG
1
European journal of neurology
1
Human mutation
1
Journal of human genetics
1
Journal of neurology, neurosurgery, and psychiatry
1
Journal of the neurological sciences
1
Neuro-degenerative diseases
1
Neurocase
1
Neurogenetics
1
Neuromuscular disorders : NMD
1
Neuropathology and applied neurobiology
1
Orphanet journal of rare diseases
1
Parkinsonism & related disorders
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Thema
Research Support, Non-U.S. Gov't
21
Journal Article
4
Case Reports
4
Letter
3
DNA-Binding Proteins
3
Proteins
3
Transcription Factors
2
9007-49-2
2
C9orf72 Protein
2
C9orf72 protein, human
2
Comparative Study
2
Connexins
2
DNA
2
EC 1.15.1.1
2
EC 2.3.2.27
2
EGR2 protein, human
2
Early Growth Response Protein 2
2
Intracellular Signaling Peptides and Proteins
2
Myelin P0 Protein
2
Receptors, N-Methyl-D-Aspartate
Alle anzeigen ...
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Erscheinungszeitraum
3
2020-
11
2010-2019
12
2000-2009
Erscheinungsjahr(e)
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Sprache
26
Englisch
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