author-photo

Paola Mandich

University of Genoa

180

Papers

3393

Citations

Citation Trend

Filter By

Papers (128) Sort By

Journal Conference Others

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

2021 Molecular Genetics & Genomic Medicine
Show All
- Source
- Cite
- Save
Citations (0)
The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment

2021 Neurobiology of Aging
Show All
- Source
- Cite
- Save
Citations (0)
RFC1 expansions are a common cause of idiopathic sensory neuropathy.

2021 Brain
Show All
- Source
- Cite
- Save
Citations (5)
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

2020 Orphanet Journal of Rare Diseases
Show All
- Source
- Cite
- Save
Citations (2)
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum.

2020 European Journal of Neurology
Show All
- Source
- Cite
- Save
Citations (3)
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

2020 Annals of Human Genetics
Show All
- Source
- Cite
- Save
Citations (3)
EARLY ONSET DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE CAUSED BY A NOVEL IN-FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2.

2020 Journal of The Peripheral Nervous System
Show All
- Source
- Cite
- Save
Citations (3)
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

2019 Journal of the Neurological Sciences
Show All
- Source
- Cite
- Save
Citations (7)
E200k Familial Creutzfeldt-Jakob Disease Presenting with Subacute Multiple Cranial Neuropathy

2019 The Open Neurology Journal
Show All
- Source
- Cite
- Save
Citations (1)
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

2019 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (11)