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Search Results - Perusi, Chiara
Search Results - Perusi, Chiara
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A common β hexosaminidase gene mutation in adult Sandhoff disease patients
by
GOMEZ-LIRA, M
,
SANGALLI, A
,
MOTTES, M
,
PERUSI, C
,
PIGNATTI, P. F
,
RIZZUTO, N
,
SALVIATI, A
Published in
Human genetics
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Mutations associated with very late-onset metachromatic leukodystrophy
by
Perusi, Chiara
,
Gomez Lira, Macarena
,
Duyff, Ruurd F
,
Weinstein, Henri C
,
Pignatti, Pier Franco
,
Rizzuto, Nicola
,
Salviati, Alessandro
Published in
Clinical genetics
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Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutatio...
by
GOMEZ-LIRA, M
,
PERUSI, C
,
MOTTES, M
,
PIGNATTI, P. F
,
MANFREDI, M
,
RIZZUTO, N
,
SALVIATI, A
Published in
Human genetics
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Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients
by
Gomez-Lira, Macarena
,
Perusi, Chiara
,
Mottes, Monica
,
Pignatti, Pier Franco
,
Uziel, Graziella
,
Rizzuto, Nicolò
,
Salviati, Alessandro
Published in
Journal of the neurological sciences
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A common ? hexosaminidase gene mutation in adult Sandhoff disease patients
by
Gomez-Lira, Macarena
,
Sangalli, Antonella
,
Mottes, Monica
,
Perusi, Chiara
,
Pignatti, PierFranco
,
Rizzuto, Nicol
,
Salviati, Alessandro
Published in
Human genetics
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A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the Arylsulfatase A gene
by
Perusi, Chiara
,
Gomez-Lira, Macarena
,
Mottes, Monica
,
Franco Pignatti, Pier
,
Rizzuto, Nicolo
,
Salviati, Alessandro
Published in
Molecular and cellular probes
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Splicing mutation causes infantile Sandhoff disease
by
Gomez-Lira, Macarena
,
Perusi, Chiara
,
Mottes, Monica
,
Pignatti, Pier Franco
,
Rizzuto, Nicolò
,
Gatti, Rosanna
,
Salviati, Alessandro
Published in
American journal of medical genetics
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Clinical validation of a combinatorial PharmAcogeNomic approach in major Depressive disorder: an Observational prospective RAndomized, participant and rater-blinded, controlled tri...
by
Minelli, Alessandra
,
Barlati, Stefano
,
Vitali, Erika
,
Bignotti, Stefano
,
Dattilo, Vincenzo
,
Tura, Giovanni Battista
,
Maffioletti, Elisabetta
,
Giacopuzzi, Edoardo
,
Santoro, Vincenza
,
Perusi, Giulia
,
Cobelli, Chiara
,
Magri, Chiara
,
Bonizzato, Silvia
,
Bocchio-Chiavetto, Luisella
,
Spina, Edoardo
,
Vita, Antonio
,
Gennarelli, Massimo
Published in
Current controlled trials in cardiovascular medicine
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Inflammation-related microRNAs are involved in stressful life events exposure and in trauma-focused psychotherapy in treatment-resistant depressed patients
by
Maffioletti, Elisabetta
,
Bocchio-Chiavetto, Luisella
,
Perusi, Giulia
,
Carvalho Silva, Rosana
,
Sacco, Chiara
,
Bazzanella, Roberta
,
Zampieri, Elisa
,
Bortolomasi, Marco
,
Gennarelli, Massimo
,
Minelli, Alessandra
Published in
European journal of psychotraumatology
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