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1 . Academic Journal
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
저자
by
Fumagalli, Francesca
;
Calbi, Valeria
;
Natali Sora, Maria Grazia
;
Sessa, Maria
;
Baldoli, Cristina
, et al.
소스
In
The Lancet
22-28 January 2022 399(10322):372-383
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7 . Academic Journal
Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant
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by
Bianco, Lorenzo
;
Arrigo, Alessandro
;
Antropoli, Alessio
;
Carrera, Paola
;
Spiga, Ivana
, et al.
소스
In
American Journal of Ophthalmology Case Reports
June 2022 26
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7 . Academic Journal
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders.
저자
by
Zambon, Alberto A.
;
Ghezzi, Daniele
;
Baldoli, Cristina
;
Cutillo, Gianni
;
Fontana, Katia
, et al.
소스
Annals of Clinical & Translational Neurology
. Oct2023, Vol. 10 Issue 10, p1844-1853. 10p.
Open Access (Wiley)
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7 . Periodical
PRPH2-Associated Retinopathy
저자
by
Bianco, Lorenzo
;
Arrigo, Alessandro
;
Antropoli, Alessio
;
Saladino, Andrea
;
Spiga, Ivana
, et al.
소스
Ophthalmology Retina; May 2023, Vol. 7 Issue: 5 p450-461, 12p
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7 . Academic Journal
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients.
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by
Fumagalli, Francesca
;
Zambon, Alberto A.
;
Rancoita, Paola M. V.
;
Baldoli, Cristina
;
Canale, Sabrina
, et al.
소스
Journal of Inherited Metabolic Disease; Sep2021, Vol. 44 Issue 5, p1151-1164, 14p
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7 . Academic Journal
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.
저자
by
Ferrarese, Mattia
;
Baroni, Marcello
;
Della Valle, Patrizia
;
Spiga, Ivana
;
Poloniato, Antonella
, et al.
소스
Haemophilia
. Jul2019, Vol. 25 Issue 4, p685-692. 8p. 3 Graphs.
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7 . Academic Journal
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
저자
by
Cesani, Martina
;
Lorioli, Laura
;
Grossi, Serena
;
Amico, Giulia
;
Fumagalli, Francesca
, et al.
소스
Human Mutation
. Jan 01, 2016 37(1):16-27
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7 . Academic Journal
Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis
저자
by
Benedetti, Sara
;
Previtali, Stefano Carlo
;
Coviello, Silvia
;
Scarlato, Marina
;
Cerri, Federica
, et al.
소스
Archives of Neurology
. Dec 01, 2010 67(12):1498-1505
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7 . Academic Journal
High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene
저자
by
Castiglioni, Emanuela
;
Soriani, Nadia
;
Girelli, Domenico
;
Camaschella, Clara
;
Spiga, Ivana
, et al.
소스
Clinical Chemistry and Laboratory Medicine
. Oct 01, 2010 48(10):1415-1418
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7 . Academic Journal
Lentiviral Hematopoietic Stem and Progenitor Cell Gene Therapy (HSPC-GT) for Metachromatic Leukodystrophy (MLD): Clinical Outcomes from 33 Patients
저자
by
Calbi, Valeria
;
Fumagalli, Francesca
;
Sessa, Maria
;
Zambon, Alberto
;
Baldoli, Cristina
, et al.
소스
BONE MARROW TRANSPLANTATION
; DEC 2020, 55 SUPPL 1, p72-p73, 2p. Supplement: TEM CELL T
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