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Author/Creator Bertini, E

3. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. Issue 7 (16th June 2005)

Authors:
Benedetti, S; Bertini, E; Iannaccone, S; Angelini, C; Trisciani, M; Toniolo, D; Sferrazza, B; Carrera, P; Comi, G; Ferrari, M; Quattrini, A; Previtali, S C
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 76:Issue 7(2005)
Page Start:
1019
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (5th June 2019)

Authors:
Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J
Journal:
Canadian journal of neurological sciences
Issue:
Volume 46(2019)Supplement 1
Page Start:
S34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (June 2019)

Authors:
Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J
Journal:
Canadian journal of neurological sciences
Issue:
Volume 46(2019)Supplement 1
Page Start:
S34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗