Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Verdura, Edgard
Schlüter, Agatha
Fernández Eulate, Gorka
Ramos-Martín, Raquel
Zulaica, Miren
Planas Serra, Laura
Ruiz, Montserrat
Fourcade, Stéphane
Casasnovas Pons, Carlos
López de Munain, Adolfo
Pujol Onofre, Aurora

July 2020

Objective: to identify causative mutations in a patient affected by ataxia and spastic paraplegia. M...

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar, Kishore R.
Blair, Nicholas F.
Vandebona, Himesha
Liang, Christina
Ng, Karl
Sharpe, David M.
Grünewald, Anne
Golnitz, Uta
Saviouk, Viatcheslav
Rolfs, Arndt
Klein, Christine
Sue, Carolyn M.

January 2013

peer reviewedMolecular characterization is important for an accurate diagnosis in hereditary spastic...

Molecular Analysis of the Autosomal Dominant Spastic Paraplegia Type IV (SPG4)

Lau, En-Lieng

January 2001

Reine hereditäre spastische Paraplegie (pHSP) bezeichnet eine Gruppe von relativ gutartigen neurodeg...

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Ferese, Rosangela
Scala, Simona
Suppa, Antonio
Campopiano, Rosa
Asci, Francesco
Chiaravalloti, Maria Antonietta
Zampogna, Alessandro
D'Alessio, Carmelo
Fittipaldi, Filomena
Buttari, Fabio
Di Pardo, Alba
Giardina, Emiliano
Zampatti, Stefania
Fornai, Francesco
Novelli, Giuseppe
Fanelli, Mirco
Zecca, Chiara
Logroscino, Giancarlo
Centonze, Diego
Gambardella, Stefano

January 2022

Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Ferese, Rosangela
Scala, Simona
Suppa, Antonio
Campopiano, Rosa
Asci, Francesco
Zampogna, Alessandro
Chiaravalloti, Maria Antonietta
Griguoli, Annamaria
Storto, Marianna
Pardo, Alba Di
Giardina, Emiliano
Zampatti, Stefania
Fornai, Francesco
Novelli, Giuseppe
Fanelli, Mirco
Zecca, Chiara
Logroscino, Giancarlo
Centonze, Diego
Gambardella, Stefano

January 2023

introduction: pure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST...

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Svenson, Ingrid K.
Ashley-Koch, Allison E.
Gaskell, P. Craig
Riney, Travis J.
Cumming, W. J. Ken
Kingston, Helen M.
Hogan, Edward L.
Boustany, Rose-Mary N.
Vance, Jeffery M.
Nance, Martha A.
Pericak-Vance, Margaret A.
Marchuk, Douglas A.

May 2001

Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant heredi...

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Kawarai T.
Montecchiani C.
Miyamoto R.
Gaudiello F.
Caltagirone C.
Izumi Y.
Kaji R.
Orlacchio A.

January 2017

Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of ...

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Nathaniel M. Robbins
Jillian R. Ozmore
Thomas L. Winder
Pedro Gonzalez-Alegre
Tanya M. Bardakjian

January 2020

Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine th...

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

PATRONO C
SCARANO V
CRICCHI F
MELONE, Mariarosa Anna Beatrice
CHIRIACO M
NAPOLITANO A
MALANDRINI A
DE MICHELE G
PETROZZI L
GIRALDI C
SANTORO L
SERVIDEI S
CASALI C
FILLA A
SANTORELLI F.M.

January 2005

We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen p...

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Magariello, A.
Muglia, M.
Patitucci, A.
Ungaro, C.
Mazzei, R.
Gabriele, A.L.
Sprovieri, T.
Citrigno, L.
Conforti, F.L.
Liguori, M.
Gambardella, A
Bono, F.
Piccoli, T.
Patti, F.
Zappia, M.
Mancuso, M.
Iemolo, F.
Quattrone, A.

January 2010

Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) account...

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

F. Crippa
C. Panzeri
A. Martinuzzi
A. Arnoldi
F. Redaelli
A. Tonelli
C. Baschirotto
G. Vazza
M. L. Mostacciuolo
A. Daga
G. Orso
P. Profice
A. Trabacca
M. G. D'Angelo
G.P. Comi
S. Galbiati
C. Lamperti
S. Bonato
M. Pandolfo
G. Meola
O. Musumeci
A. Toscano
C. P. Trevisan
N. Bresolin
M. T. Bassi

January 2006

Background: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders c...

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia

CRIPPA F
PANZERI C
ARNOLDI A
REDAELLI F
TONELLI A
BASCHIROTTO C
DAGA A
ORSO G
PROFICE P
TRABACCA A
D'ANGELO MG
COMI GP
GALBIATI S
LAMPERTI C
BONATO S
PANDOLFO M
MEOLA G
MUSUMECI O
TOSCANO A
BRESOLIN N
BASSI MT
MARTINUZZI, ANDREA
VAZZA, GIOVANNI
MOSTACCIUOLO, MARIA LUISA
TREVISAN, CARLO PIETRO

January 2006

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders ch...

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

MAGARIELLO A
MUGLIA M
PATITUCCI A
MAZZEI R
CONFORTI FL
GABRIELE AL
SPROVIERI T
UNGARO C
GAMBARDELLA A
MANCUSO M
SICILIANO G
BRANCA D
AGUGLIA U
DE ANGELIS MV
LONGO K
QUATTRONE A

January 2006

Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member o...

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Verdura, Edgard
Schlüter, Agatha
Fernández Eulate, Gorka
Ramos-Martín, Raquel
Zulaica, Miren
Planas Serra, Laura
Ruiz, Montserrat
Fourcade, Stéphane
Casasnovas Pons, Carlos
López de Munain, Adolfo
Pujol Onofre, Aurora

July 2020

Objective: to identify causative mutations in a patient affected by ataxia and spastic paraplegia. M...

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar, Kishore R.
Blair, Nicholas F.
Vandebona, Himesha
Liang, Christina
Ng, Karl
Sharpe, David M.
Grünewald, Anne
Golnitz, Uta
Saviouk, Viatcheslav
Rolfs, Arndt
Klein, Christine
Sue, Carolyn M.

January 2013

peer reviewedMolecular characterization is important for an accurate diagnosis in hereditary spastic...

Molecular Analysis of the Autosomal Dominant Spastic Paraplegia Type IV (SPG4)

Lau, En-Lieng

January 2001

Reine hereditäre spastische Paraplegie (pHSP) bezeichnet eine Gruppe von relativ gutartigen neurodeg...

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Ferese, Rosangela
Scala, Simona
Suppa, Antonio
Campopiano, Rosa
Asci, Francesco
Chiaravalloti, Maria Antonietta
Zampogna, Alessandro
D'Alessio, Carmelo
Fittipaldi, Filomena
Buttari, Fabio
Di Pardo, Alba
Giardina, Emiliano
Zampatti, Stefania
Fornai, Francesco
Novelli, Giuseppe
Fanelli, Mirco
Zecca, Chiara
Logroscino, Giancarlo
Centonze, Diego
Gambardella, Stefano

January 2022

Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Ferese, Rosangela
Scala, Simona
Suppa, Antonio
Campopiano, Rosa
Asci, Francesco
Zampogna, Alessandro
Chiaravalloti, Maria Antonietta
Griguoli, Annamaria
Storto, Marianna
Pardo, Alba Di
Giardina, Emiliano
Zampatti, Stefania
Fornai, Francesco
Novelli, Giuseppe
Fanelli, Mirco
Zecca, Chiara
Logroscino, Giancarlo
Centonze, Diego
Gambardella, Stefano

January 2023

introduction: pure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST...

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Svenson, Ingrid K.
Ashley-Koch, Allison E.
Gaskell, P. Craig
Riney, Travis J.
Cumming, W. J. Ken
Kingston, Helen M.
Hogan, Edward L.
Boustany, Rose-Mary N.
Vance, Jeffery M.
Nance, Martha A.
Pericak-Vance, Margaret A.
Marchuk, Douglas A.

May 2001

Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant heredi...

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Kawarai T.
Montecchiani C.
Miyamoto R.
Gaudiello F.
Caltagirone C.
Izumi Y.
Kaji R.
Orlacchio A.

January 2017

Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of ...

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Nathaniel M. Robbins
Jillian R. Ozmore
Thomas L. Winder
Pedro Gonzalez-Alegre
Tanya M. Bardakjian

January 2020

Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine th...

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

PATRONO C
SCARANO V
CRICCHI F
MELONE, Mariarosa Anna Beatrice
CHIRIACO M
NAPOLITANO A
MALANDRINI A
DE MICHELE G
PETROZZI L
GIRALDI C
SANTORO L
SERVIDEI S
CASALI C
FILLA A
SANTORELLI F.M.

January 2005

We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen p...

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Magariello, A.
Muglia, M.
Patitucci, A.
Ungaro, C.
Mazzei, R.
Gabriele, A.L.
Sprovieri, T.
Citrigno, L.
Conforti, F.L.
Liguori, M.
Gambardella, A
Bono, F.
Piccoli, T.
Patti, F.
Zappia, M.
Mancuso, M.
Iemolo, F.
Quattrone, A.

January 2010

Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) account...

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

F. Crippa
C. Panzeri
A. Martinuzzi
A. Arnoldi
F. Redaelli
A. Tonelli
C. Baschirotto
G. Vazza
M. L. Mostacciuolo
A. Daga
G. Orso
P. Profice
A. Trabacca
M. G. D'Angelo
G.P. Comi
S. Galbiati
C. Lamperti
S. Bonato
M. Pandolfo
G. Meola
O. Musumeci
A. Toscano
C. P. Trevisan
N. Bresolin
M. T. Bassi

January 2006

Background: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders c...

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia

CRIPPA F
PANZERI C
ARNOLDI A
REDAELLI F
TONELLI A
BASCHIROTTO C
DAGA A
ORSO G
PROFICE P
TRABACCA A
D'ANGELO MG
COMI GP
GALBIATI S
LAMPERTI C
BONATO S
PANDOLFO M
MEOLA G
MUSUMECI O
TOSCANO A
BRESOLIN N
BASSI MT
MARTINUZZI, ANDREA
VAZZA, GIOVANNI
MOSTACCIUOLO, MARIA LUISA
TREVISAN, CARLO PIETRO

January 2006

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders ch...

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

MAGARIELLO A
MUGLIA M
PATITUCCI A
MAZZEI R
CONFORTI FL
GABRIELE AL
SPROVIERI T
UNGARO C
GAMBARDELLA A
MANCUSO M
SICILIANO G
BRANCA D
AGUGLIA U
DE ANGELIS MV
LONGO K
QUATTRONE A

January 2006

Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member o...

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Verdura, Edgard
Schlüter, Agatha
Fernández Eulate, Gorka
Ramos-Martín, Raquel
Zulaica, Miren
Planas Serra, Laura
Ruiz, Montserrat
Fourcade, Stéphane
Casasnovas Pons, Carlos
López de Munain, Adolfo
Pujol Onofre, Aurora

July 2020

Objective: to identify causative mutations in a patient affected by ataxia and spastic paraplegia. M...

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar, Kishore R.
Blair, Nicholas F.
Vandebona, Himesha
Liang, Christina
Ng, Karl
Sharpe, David M.
Grünewald, Anne
Golnitz, Uta
Saviouk, Viatcheslav
Rolfs, Arndt
Klein, Christine
Sue, Carolyn M.

January 2013

peer reviewedMolecular characterization is important for an accurate diagnosis in hereditary spastic...

Molecular Analysis of the Autosomal Dominant Spastic Paraplegia Type IV (SPG4)

Lau, En-Lieng

January 2001

Reine hereditäre spastische Paraplegie (pHSP) bezeichnet eine Gruppe von relativ gutartigen neurodeg...

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Abstract

Extracted data

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Abstract

Extracted data

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