The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Awad, Mark M.
Dalal, Darshan
Cho, Eunpi
Amat-Alarcon, Nuria
James, Cynthia
Tichnell, Crystal
Tucker, April
Russell, Stuart D.
Bluemke, David A.
Dietz, Harry C.
Calkins, Hugh
Judge, Daniel P.

July 2006

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fi...

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Pilichou, Kalliopi
Nava, Andrea
Basso, Cristina
Beffagna, Giorgia
Bauce, Barbara
Lorenzon, Alessandra
Frigo, Gianfranco
Vettori, Andrea
Valente, Marialuisa
Towbin, Jeffrey
Thiene, Gaetano
Danieli, Gian Antonio
Rampazzo, Alessandra

January 2006

Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy c...

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular

Mireia Alcalde
Oscar Campuzano
Paola Berne
Ada Doltra
Elena Arbelo
Georgia Sarquella-brugada

August 2016

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease characterize...

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

TEKGÜL, HASAN
Yilmaz, Sanem
ERASLAN, CENK
GÖKBEN, SARENUR
Mancini, Grazia M. S.
Tekin, Hande
Serdaroglu, Gul

January 2016

Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recentl...

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

de Wit, Marie Claire
Coo, IFM
Halley, Dicky
Lequin, MH
Verheijen - Mancini, Grazia

January 2009

We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular ...

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Gana S.
Casella A.
Cociglio S.
Tartara E.
Rognone E.
Giorgio E.
Pichiecchio A.
Orcesi S.
Valente E. M.

January 2021

The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neura...

de Sainte Agathe, Jean-Madeleine
Pode-Shakked, Ben
Naudion, Sophie
Michaud, Vincent
Arveiler, Benoit
Fergelot, Patricia
Delmas, Jean
Keren, Boris
Poirsier, Céline
Alkuraya, Fowzan
Tabarki, Brahim
Bend, Eric
Davis, Kellie
Bebin, Martina
Thompson, Michelle
Bryant, Emily
Wagner, Matias
Hannibal, Iris
Lenberg, Jerica
Krenn, Martin
Wigby, Kristen
Friedman, Jennifer
Iascone, Maria
Cereda, Anna
Miao, Térence
LeGuern, Eric
Sherr, Elliott
Caluseriu, Oana
Tidwell, Timothy
Bayrak-Toydemir, Pinar
Hagedorn, Caroline
Brugger, Melanie
Vill, Katharina
Morneau-Jacob, Francois-Dominique
Chung, Wendy
Weaver, Kathryn
Owens, Joshua
Husami, Ammar
Chaudhari, Bimal
Stone, Brandon
Burns, Katie
Li, Rachel
de Lange, Iris
Biehler, Margaux
Ginglinger, Emmanuelle
Gérard, Bénédicte
Stottmann, Rolf
Trimouille, Aurélien
Argilli, Emanuela

October 2023

PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five i...

ORIGINAL ARTICLE Movement disorder and neuronal migration disorder

January 2008

Abstract We report a child with a severe choreadystonic movement disorder, bilateral periventricular...

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

E. Parrini
A. Ramazzotti
W.B. Dobyns
D. Mei
F. Moro
P. Veggiotti
C. Marini
E.H. Brilstra
B.D. Bernardina
L. Goodwin
A. Bodell
M.C. Jones
M. Nangeroni
S. Palmeri
E. Said
J.W. Sander
P. Striano
Y. Takahashi
L. Van Maldergem
G. Leonardi
M. Wright
C.A. Walsh
R. Guerrini

January 2006

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...

Clinical and molecular data define a diagnosis of arrhythmogenic cardiomyopathy in a carrier of a brugada-syndrome-associated PKP2 mutation

Persampieri S.
Pilato C. A.
Sommariva E.
Maione A. S.
Stadiotti I.
Ranalletta A.
Torchio M.
Dello Russo A.
Basso C.
Pompilio G.
Tondo C.
Casella M.

January 2020

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy...

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation

Persampieri, Simone
Pilato, Chiara Assunta
Sommariva, Elena
Maione, Angela Serena
Stadiotti, Ilaria
Ranalletta, Antonio
Torchio, Margherita
Dello Russo, Antonio
Basso, Cristina
Pompilio, Giulio
Tondo, Claudio
Casella, Michela

January 2020

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy...

Genetic bases of arrhythmogenic right ventricular cardiomyopathy.

Rampazzo, Alessandra

January 2006

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease in which the pathol...

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PARRINI E
RAMAZZOTTI A
DOBYNS WB
MEI D
MORO F
VEGGIOTTI P
MARINI C
BRILSTRA EH
DALLA BERNARDINA B
GOODWIN L
BODELL A
JONES MC
NANGERONI M
SAID E
SANDER JW
STRIANO P
TAKAHASHI Y
VAN MALDERGEM L
LEONARDI G
WRIGHT M
WALSH CA
GUERRINI R.
PALMERI, SILVIA

January 2006

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Ganapathi, M.
Matsuoka, L. S.
March, M.
Li, D.
Brokamp, E.
Benito-Sanz, S.
White, S. M.
Lachlan, K.
Ahimaz, P.
Sewda, A.
Bastarache, L.
Thomas-Wilson, A.
Stoler, J. M.
Bramswig, N. C.
Baptista, J.
Stals, K.
Demurger, F.
Cogne, B.
Isidor, B.
Bedeschi, M. F.
Peron, A.
Amiel, J.
Zackai, E.
Schacht, J. P.
Iglesias, A. D.
Morton, J.
Schmetz, A.
Seidel, V.
Lucia, S.
Baskin, S. M.
Thiffault, I.
Cogan, J. D.
Gordon, C. T.
Chung, W. K.
Bowdin, S.
Bhoj, E.

July 2023

Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TF2) encodes a transcription factor whi...

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.

Li Mura, Ie
Bauce, Barbara
Nava, Andrea
Fanciulli, M
Vazza, Giovanni
Mazzotti, E
Rigato, I
De Bortoli, M
Beffagna, Giorgia
Lorenzon, A
Calore, M
Dazzo, E
Nobile, C
Mostacciuolo, MARIA LUISA
Corrado, Domenico
Basso, Cristina
Daliento, Luciano
Thiene, Gaetano
Rampazzo, Alessandra

January 2013

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disease characteriz...

DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Awad, Mark M.
Dalal, Darshan
Cho, Eunpi
Amat-Alarcon, Nuria
James, Cynthia
Tichnell, Crystal
Tucker, April
Russell, Stuart D.
Bluemke, David A.
Dietz, Harry C.
Calkins, Hugh
Judge, Daniel P.

July 2006

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fi...

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Pilichou, Kalliopi
Nava, Andrea
Basso, Cristina
Beffagna, Giorgia
Bauce, Barbara
Lorenzon, Alessandra
Frigo, Gianfranco
Vettori, Andrea
Valente, Marialuisa
Towbin, Jeffrey
Thiene, Gaetano
Danieli, Gian Antonio
Rampazzo, Alessandra

January 2006

Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy c...

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular

Mireia Alcalde
Oscar Campuzano
Paola Berne
Ada Doltra
Elena Arbelo
Georgia Sarquella-brugada

August 2016

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease characterize...

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

TEKGÜL, HASAN
Yilmaz, Sanem
ERASLAN, CENK
GÖKBEN, SARENUR
Mancini, Grazia M. S.
Tekin, Hande
Serdaroglu, Gul

January 2016

Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recentl...

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

de Wit, Marie Claire
Coo, IFM
Halley, Dicky
Lequin, MH
Verheijen - Mancini, Grazia

January 2009

We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular ...

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Gana S.
Casella A.
Cociglio S.
Tartara E.
Rognone E.
Giorgio E.
Pichiecchio A.
Orcesi S.
Valente E. M.

January 2021

The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neura...

de Sainte Agathe, Jean-Madeleine
Pode-Shakked, Ben
Naudion, Sophie
Michaud, Vincent
Arveiler, Benoit
Fergelot, Patricia
Delmas, Jean
Keren, Boris
Poirsier, Céline
Alkuraya, Fowzan
Tabarki, Brahim
Bend, Eric
Davis, Kellie
Bebin, Martina
Thompson, Michelle
Bryant, Emily
Wagner, Matias
Hannibal, Iris
Lenberg, Jerica
Krenn, Martin
Wigby, Kristen
Friedman, Jennifer
Iascone, Maria
Cereda, Anna
Miao, Térence
LeGuern, Eric
Sherr, Elliott
Caluseriu, Oana
Tidwell, Timothy
Bayrak-Toydemir, Pinar
Hagedorn, Caroline
Brugger, Melanie
Vill, Katharina
Morneau-Jacob, Francois-Dominique
Chung, Wendy
Weaver, Kathryn
Owens, Joshua
Husami, Ammar
Chaudhari, Bimal
Stone, Brandon
Burns, Katie
Li, Rachel
de Lange, Iris
Biehler, Margaux
Ginglinger, Emmanuelle
Gérard, Bénédicte
Stottmann, Rolf
Trimouille, Aurélien
Argilli, Emanuela

October 2023

PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five i...

ORIGINAL ARTICLE Movement disorder and neuronal migration disorder

January 2008

Abstract We report a child with a severe choreadystonic movement disorder, bilateral periventricular...

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

E. Parrini
A. Ramazzotti
W.B. Dobyns
D. Mei
F. Moro
P. Veggiotti
C. Marini
E.H. Brilstra
B.D. Bernardina
L. Goodwin
A. Bodell
M.C. Jones
M. Nangeroni
S. Palmeri
E. Said
J.W. Sander
P. Striano
Y. Takahashi
L. Van Maldergem
G. Leonardi
M. Wright
C.A. Walsh
R. Guerrini

January 2006

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...

Clinical and molecular data define a diagnosis of arrhythmogenic cardiomyopathy in a carrier of a brugada-syndrome-associated PKP2 mutation

Persampieri S.
Pilato C. A.
Sommariva E.
Maione A. S.
Stadiotti I.
Ranalletta A.
Torchio M.
Dello Russo A.
Basso C.
Pompilio G.
Tondo C.
Casella M.

January 2020

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy...

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation

Persampieri, Simone
Pilato, Chiara Assunta
Sommariva, Elena
Maione, Angela Serena
Stadiotti, Ilaria
Ranalletta, Antonio
Torchio, Margherita
Dello Russo, Antonio
Basso, Cristina
Pompilio, Giulio
Tondo, Claudio
Casella, Michela

January 2020

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy...

Genetic bases of arrhythmogenic right ventricular cardiomyopathy.

Rampazzo, Alessandra

January 2006

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease in which the pathol...

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PARRINI E
RAMAZZOTTI A
DOBYNS WB
MEI D
MORO F
VEGGIOTTI P
MARINI C
BRILSTRA EH
DALLA BERNARDINA B
GOODWIN L
BODELL A
JONES MC
NANGERONI M
SAID E
SANDER JW
STRIANO P
TAKAHASHI Y
VAN MALDERGEM L
LEONARDI G
WRIGHT M
WALSH CA
GUERRINI R.
PALMERI, SILVIA

January 2006

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Ganapathi, M.
Matsuoka, L. S.
March, M.
Li, D.
Brokamp, E.
Benito-Sanz, S.
White, S. M.
Lachlan, K.
Ahimaz, P.
Sewda, A.
Bastarache, L.
Thomas-Wilson, A.
Stoler, J. M.
Bramswig, N. C.
Baptista, J.
Stals, K.
Demurger, F.
Cogne, B.
Isidor, B.
Bedeschi, M. F.
Peron, A.
Amiel, J.
Zackai, E.
Schacht, J. P.
Iglesias, A. D.
Morton, J.
Schmetz, A.
Seidel, V.
Lucia, S.
Baskin, S. M.
Thiffault, I.
Cogan, J. D.
Gordon, C. T.
Chung, W. K.
Bowdin, S.
Bhoj, E.

July 2023

Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TF2) encodes a transcription factor whi...

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.

Li Mura, Ie
Bauce, Barbara
Nava, Andrea
Fanciulli, M
Vazza, Giovanni
Mazzotti, E
Rigato, I
De Bortoli, M
Beffagna, Giorgia
Lorenzon, A
Calore, M
Dazzo, E
Nobile, C
Mostacciuolo, MARIA LUISA
Corrado, Domenico
Basso, Cristina
Daliento, Luciano
Thiene, Gaetano
Rampazzo, Alessandra

January 2013

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disease characteriz...

DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Awad, Mark M.
Dalal, Darshan
Cho, Eunpi
Amat-Alarcon, Nuria
James, Cynthia
Tichnell, Crystal
Tucker, April
Russell, Stuart D.
Bluemke, David A.
Dietz, Harry C.
Calkins, Hugh
Judge, Daniel P.

July 2006

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fi...

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Pilichou, Kalliopi
Nava, Andrea
Basso, Cristina
Beffagna, Giorgia
Bauce, Barbara
Lorenzon, Alessandra
Frigo, Gianfranco
Vettori, Andrea
Valente, Marialuisa
Towbin, Jeffrey
Thiene, Gaetano
Danieli, Gian Antonio
Rampazzo, Alessandra

January 2006

Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy c...

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular

Mireia Alcalde
Oscar Campuzano
Paola Berne
Ada Doltra
Elena Arbelo
Georgia Sarquella-brugada

August 2016

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease characterize...

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

Abstract

Extracted data

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

Abstract

Extracted data

Related items

Related items