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PubPharm (127)
51
Charcot-Marie-Tooth disease : frequency of genetic subtypes in a Southern Italy population
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2014
von
Manganelli, F.
|
Tozza, S.
|
Pisciotta, C.
| +7
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52
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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53
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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54
Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A
enthalten in:
Neuromuscular disorders : NMD
| 2013
von
Ursino, G.
|
Alberti, M.
|
Grandis, M.
| +10
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55
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A
enthalten in:
Neuromuscular disorders
| 2013
von
Ursino, G.
|
Alberti, M.
|
Grandis, M.
| +10
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56
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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57
The FIG4 gene does not play a major role in causing ALS in Italian patients
enthalten in:
Amyotrophic lateral sclerosis & frontotemporal degeneration
| 2013
von
Verdiani, S.
|
Origone, P.
|
Geroldi, A.
| +6
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58
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2012
von
Manganelli, F.
|
Pisciotta, C.
|
Nolano, M.
| +7
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59
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family
enthalten in:
Journal of the peripheral nervous system
| 2012
von
Manganelli, F.
|
Pisciotta, C.
|
Nolano, M.
| +7
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60
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype
enthalten in:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
| 2012
von
Origone, P.
|
Caponnetto, C.
|
Verdiani, S.
| +6
CommentOn: Amyotroph Lateral Scler. 2011 Sep;12(5):385-8. - PMID 21574856
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neuropathy
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DNA-Binding Proteins
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