Hereditary spastic paraplegia 3A associated with axonal neuropathy

SPG10 is a rare cause of spastic paraplegia in European families.

Schule, R.
Kremer, H.P.H.
Kassubek, J.
Auer-Grumbach, M.
Kostic, V.
Klopstock, T.
Klimpe, S.
Otto, S.
Boesch, S.
Warrenburg, B.P.C. van de
Schols, L.

January 2008

Contains fulltext : 71099.pdf (publisher's version ) (Closed access)BACKGROUND: SP...

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez, Victoria
Sánchez-Ferrero, Elena
Beetz, Christian
Díaz, Marta
Alonso, Belén
Corao, Ana I
Gámez, Josep
Esteban, Jesús
Gonzalo, Juan F
Pascual-Pascual, Samuel I
López de Munain, Adolfo
Moris, Germán
Ribacoba, Renne
Márquez, Celedonio
Rosell, Jordi
Marín, Rosario
García-Barcina, Maria J
Castillo, Emilia Del
Benito, Carmen
Coto, Eliecer

October 2010

Journal Article; Research Support, Non-U.S. Gov't;BACKGROUND Hereditary Spastic Paraplegias (HSP) a...

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia

Min-Yu Lan
Ser-Chen Fu
Yung-Yee Chang
Yah-Huei Wu-Chou
Szu-Chia Lai
Rou-Shyan Chen
Chin-Song Lu

July 2012

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative...

Hereditary spastic paraplegia 3A associated with axonal neuropathy

Ivanova, Neviana
Claeys, Kristl G
Deconinck, Tine
Litvinenko, Ivan
Jordanova, Albena
Auer-Grumbach, Michaela
Haberlova, Jana
Lofgren, Ann
Smeyers, Gisele
Nelis, Eva
Mercelis, Rudy
Plecko, Barbara
Priller, Josef
Zamecnik, Josef
Ceulemans, Berten
Erichsen, Anne Kjersti
Bjorck, Erik
Nicholson, Garth
Sereda, Michael W
Seeman, Pavel
Kremensky, Ivo
Mitev, Vanio
De Jonghe, Peter

May 2007

OBJECTIVE: To study the frequency and distribution of mutations in SPG3A in a large cohort of patien...

Title Hereditary spastic paraplegia: Identification of an SPG3A genemutation in a Chinese family

September 2016

Hereditary spastic paraplegias (HSP) are a group of clinically and genetically diverse diseases char...

Hereditary spastic paraplegia: clinical genetic study of 15 families

ORLACCHIO, ANTONIO
BERNARDI, GIORGIO
Kawarai, T
Totaro, A
Errico, A
St George Hyslop, P
Rugarli, E

June 2004

Background: Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations i...

Genetic analysis of the hereditary spastic paraplegias

Meijer, Inge A.

January 2006

The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterize...

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Musumeci O
Bassi MT
Mazzeo A
Grandis M
Crimella C
Martinuzzi A
Toscano A

January 2011

Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 S...

Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family

Lam, CW
Mak, CM
Chan, AYW
Ching, CK
Chan, KY

January 2009

Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, ...

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...

SPG10 is a rare cause of spastic paraplegia in European families

Schuele, R.
Kremer, B. P. H.
Kassubek, J.
Auer-Grumbach, M.
Kostic, V.
Klopstock, T.
Klimpe, S.
Otto, S.
Boesch, S.
van de Warrenburg, B. P.
Schoels, L.

May 2008

Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...

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...

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...

Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives

Contino G.
NOVELLI, GIUSEPPE

January 2006

Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degenera...

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
Tessa, Alessandra
Masciullo, Marcella
De Leva, Maria Francesca
Denora, Ps
Santorelli Filippo Maria,
Dotti, Maria Teresa
Casali, Carlo
Melone, Mab
Federico, A
Filla, Alessandro

January 2008

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by...

SPG10 is a rare cause of spastic paraplegia in European families.

Schule, R.
Kremer, H.P.H.
Kassubek, J.
Auer-Grumbach, M.
Kostic, V.
Klopstock, T.
Klimpe, S.
Otto, S.
Boesch, S.
Warrenburg, B.P.C. van de
Schols, L.

January 2008

Contains fulltext : 71099.pdf (publisher's version ) (Closed access)BACKGROUND: SP...

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez, Victoria
Sánchez-Ferrero, Elena
Beetz, Christian
Díaz, Marta
Alonso, Belén
Corao, Ana I
Gámez, Josep
Esteban, Jesús
Gonzalo, Juan F
Pascual-Pascual, Samuel I
López de Munain, Adolfo
Moris, Germán
Ribacoba, Renne
Márquez, Celedonio
Rosell, Jordi
Marín, Rosario
García-Barcina, Maria J
Castillo, Emilia Del
Benito, Carmen
Coto, Eliecer

October 2010

Journal Article; Research Support, Non-U.S. Gov't;BACKGROUND Hereditary Spastic Paraplegias (HSP) a...

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia

Min-Yu Lan
Ser-Chen Fu
Yung-Yee Chang
Yah-Huei Wu-Chou
Szu-Chia Lai
Rou-Shyan Chen
Chin-Song Lu

July 2012

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative...

Hereditary spastic paraplegia 3A associated with axonal neuropathy

Ivanova, Neviana
Claeys, Kristl G
Deconinck, Tine
Litvinenko, Ivan
Jordanova, Albena
Auer-Grumbach, Michaela
Haberlova, Jana
Lofgren, Ann
Smeyers, Gisele
Nelis, Eva
Mercelis, Rudy
Plecko, Barbara
Priller, Josef
Zamecnik, Josef
Ceulemans, Berten
Erichsen, Anne Kjersti
Bjorck, Erik
Nicholson, Garth
Sereda, Michael W
Seeman, Pavel
Kremensky, Ivo
Mitev, Vanio
De Jonghe, Peter

May 2007

OBJECTIVE: To study the frequency and distribution of mutations in SPG3A in a large cohort of patien...

Title Hereditary spastic paraplegia: Identification of an SPG3A genemutation in a Chinese family

September 2016

Hereditary spastic paraplegias (HSP) are a group of clinically and genetically diverse diseases char...

Hereditary spastic paraplegia: clinical genetic study of 15 families

ORLACCHIO, ANTONIO
BERNARDI, GIORGIO
Kawarai, T
Totaro, A
Errico, A
St George Hyslop, P
Rugarli, E

June 2004

Background: Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations i...

Genetic analysis of the hereditary spastic paraplegias

Meijer, Inge A.

January 2006

The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterize...

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Musumeci O
Bassi MT
Mazzeo A
Grandis M
Crimella C
Martinuzzi A
Toscano A

January 2011

Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 S...

Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family

Lam, CW
Mak, CM
Chan, AYW
Ching, CK
Chan, KY

January 2009

Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, ...

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...

SPG10 is a rare cause of spastic paraplegia in European families

Schuele, R.
Kremer, B. P. H.
Kassubek, J.
Auer-Grumbach, M.
Kostic, V.
Klopstock, T.
Klimpe, S.
Otto, S.
Boesch, S.
van de Warrenburg, B. P.
Schoels, L.

May 2008

Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...

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...

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...

Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives

Contino G.
NOVELLI, GIUSEPPE

January 2006

Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degenera...

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
Tessa, Alessandra
Masciullo, Marcella
De Leva, Maria Francesca
Denora, Ps
Santorelli Filippo Maria,
Dotti, Maria Teresa
Casali, Carlo
Melone, Mab
Federico, A
Filla, Alessandro

January 2008

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by...

SPG10 is a rare cause of spastic paraplegia in European families.

Schule, R.
Kremer, H.P.H.
Kassubek, J.
Auer-Grumbach, M.
Kostic, V.
Klopstock, T.
Klimpe, S.
Otto, S.
Boesch, S.
Warrenburg, B.P.C. van de
Schols, L.

January 2008

Contains fulltext : 71099.pdf (publisher's version ) (Closed access)BACKGROUND: SP...

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez, Victoria
Sánchez-Ferrero, Elena
Beetz, Christian
Díaz, Marta
Alonso, Belén
Corao, Ana I
Gámez, Josep
Esteban, Jesús
Gonzalo, Juan F
Pascual-Pascual, Samuel I
López de Munain, Adolfo
Moris, Germán
Ribacoba, Renne
Márquez, Celedonio
Rosell, Jordi
Marín, Rosario
García-Barcina, Maria J
Castillo, Emilia Del
Benito, Carmen
Coto, Eliecer

October 2010

Journal Article; Research Support, Non-U.S. Gov't;BACKGROUND Hereditary Spastic Paraplegias (HSP) a...

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia

Min-Yu Lan
Ser-Chen Fu
Yung-Yee Chang
Yah-Huei Wu-Chou
Szu-Chia Lai
Rou-Shyan Chen
Chin-Song Lu

July 2012

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative...

Hereditary spastic paraplegia 3A associated with axonal neuropathy

Abstract

Extracted data

Hereditary spastic paraplegia 3A associated with axonal neuropathy

Abstract

Extracted data

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