Additional file 3: of STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Stefanie Hayer (3745241)
Tine Deconinck (3745235)
Benjamin Bender (574966)
Katrien Smets (3745243)
Stephan Züchner (114699)
Selina Reich (3745239)
Ludger Schöls (115054)
Rebecca Schüle (115028)
Peter De Jonghe (370371)
Jonathan Baets (3745237)
Matthis Synofzik (276961)

Open link

Publication date

February 2017

DOI

10.6084/m9.figshare.c.3690677_d2.v1

Abstract

Case vignettes. Detailed medical history and clinical examination data of the three STUB1 patients. (DOCX 14 kb

Extracted data

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Data Protection

Additional file 3: of STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Stefanie Hayer (3745241)
Tine Deconinck (3745235)
Benjamin Bender (574966)
Katrien Smets (3745243)
Stephan Züchner (114699)
Selina Reich (3745239)
Ludger Schöls (115054)
Rebecca Schüle (115028)
Peter De Jonghe (370371)
Jonathan Baets (3745237)
Matthis Synofzik (276961)

Open link

Publication date

February 2017

DOI

10.6084/m9.figshare.c.3690677_d2.v1

Abstract

Case vignettes. Detailed medical history and clinical examination data of the three STUB1 patients. (DOCX 14 kb

Extracted data

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Electropherograms showing partial sequences of SOX10. Subject II:3 (a) has a homozygous G (indicated...

Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield (5401382)
Kyriakie Sarafoglou (5401379)
Laura Speltz (5401388)
Elizabeth Pierpont (5401394)
Joan Steyermark (5401376)
David Nascene (5401385)
Matthew Bower (487566)
Mary Pierpont (5401391)

June 2018

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...

Additional file 3: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Hayer, Stefanie Nicole
Deconinck, Tine
Bender, Benjamin
Smets, Katrien
Züchner, Stephan
Reich, Selina
Schöls, Ludger
Schüle, Rebecca
De Jonghe, Peter
Baets, Jonathan
Synofzik, Matthis

February 2017

Background: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostas...

Additional file 1: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...

Additional file 1: of Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Matthias Kettwig (3534107)
Orly Elpeleg (324361)
Eike Wegener (679425)
Steffi Dreha-Kulaczewski (3534110)
Marco Henneke (699749)
Jutta GĂ¤rtner (3534104)
Peter Huppke (679428)

May 2016

Methods â Description of Quantitative magnetization transfer (MT) imaging, proton MR-spectroscopy,...

Additional file 3: of Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Marc Woodbury-Smith (4583911)
Eric Deneault (4583908)
Ryan Yuen (4583902)
Susan Walker (469919)
Mehdi Zarrei (3431519)
Giovanna Pellecchia (345990)
Jennifer Howe (625602)
Ny Hoang (4583899)
Mohammed Uddin (192247)
Christian Marshall (137748)
Christina Chrysler (4583914)
Ann Thompson (4583905)
Peter Szatmari (364570)
Stephen Scherer (3431540)

November 2017

RAB39B4_vs_Controls6_RPKM_Filt.txt (differential expression analysis results) (TXT 4721 kb

Additional file 1: of Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Aoife Kiely (3523265)
Helen Ling (3523283)
Yasmine Asi (3523280)
Eleanna Kara (3523286)
Christos Proukakis (3426071)
Anthony Schapira (3523274)
Huw Morris (3523277)
Helen Roberts (446195)
Steven Lubbe (218843)
Patricia Limousin (291853)
Patrick Lewis (129977)
Andrew Lees (184562)
Niall Quinn (3523268)
John Hardy (23295)
Seth Love (122101)
Tamas Revesz (639474)
Henry Houlden (110428)
Janice Holton (3523271)

August 2015

A, Double immunofluorescence images of ubiquitin (green) with α-synuclein (red) in a representative ...

Additional file 3: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Pedigree of the family in this study. Round and square symbols indicate females and males, respectiv...

Additional file 4: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Summary of the eight candidate variants in the proband that were detected by whole exome sequencing....

Additional file 1: of Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Giuseppe Di Fede (379151)
Marcella Catania (332106)
Cristiana Atzori (6173564)
Fabio Moda (332100)
Claudio Pasquali (287052)
Antonio Indaco (840435)
Marina Grisoli (6173567)
Marta Zuffi (6173570)
Maria Guaita (6173573)
Roberto Testi (6173579)
Stefano Taraglio (212108)
Maria Sessa (5883026)
Graziano Gusmaroli (6173588)
Mariacarmela Spinelli (6173591)
Giulia Salzano (6173594)
Giuseppe Legname (26814)
Roberto Tarletti (6173597)
Laura Godi (6173600)
Maurizio Pocchiari (274956)
Fabrizio Tagliavini (47154)
Daniele Imperiale (212074)
Giorgio Giaccone (379152)

January 2019

Figure S1. Neuropathology of case 3. The neuropathological study on brain sample from case 3 showed ...

Additional file 1: of De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to SmithâMagenis syndrome

Francesco Vetrini (5802755)
Shane McKee (6413240)
Jill Rosenfeld (2633302)
Mohnish Suri (122274)
Andrea Lewis (6413243)
Kimberly Nugent (4355395)
Elizabeth Roeder (627672)
Rebecca Littlejohn (6413246)
Sue Holder (6413249)
Wenmiao Zhu (6413252)
Joseph Alaimo (6413255)
Brett Graham (3853039)
Jill Harris (6413258)
James Gibson (6253595)
Matthew Pastore (6413261)
Kim McBride (6413264)
Makanko Komara (6413267)
Lihadh Al-Gazali (214926)
Aisha Shamsi (6413270)
Elizabeth Fanning (6413273)
Klaas Wierenga (4268920)
Daryl Scott (6413276)
Ziva Ben-Neriah (178833)
Vardiella Meiner (543242)
Hanoch Cassuto (6279494)
Orly Elpeleg (324361)
J. Holder (5148269)
Lindsay Burrage (3572936)
Laurie Seaver (6413279)
Lionel Maldergem (6413282)
Sonal Mahida (6413285)
Janet Soul (6413288)
Margaret Marlatt (6413291)
Ludmila Matyakhina (28021)
Julie Vogt (4405636)
June-Anne Gold (6413294)
Soo-Mi Park (6413297)
Vinod Varghese (6413300)
Anne Lampe (6413303)
Ajith Kumar (585765)
Melissa Lees (2636728)
Muriel Holder-Espinasse (120257)
Vivienne McConnell (39876)
Birgitta Bernhard (6413306)
Ed Blair (6413309)
Victoria Harrison (6413312)
Donna Muzny (54293)
Richard Gibbs (144333)
Sarah Elsea (162372)
Jennifer Posey (3422258)
Weimin Bi (162353)
Seema Lalani (3572948)
Fan Xia (219575)
Yaping Yang (292220)
Christine Eng (2633299)
James Lupski (3422270)
Pengfei Liu (136115)

March 2019

Clinical information. Clinical presentation of the subjects in this study. Table S1. Phenotypes for ...

Additional file 1: Figure S1. of Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Tahir Atik (824928)
Asuman Koparir (3435422)
Guney Bademci (222766)
Joseph Foster (3435410)
Umut Altunoglu (3435401)
GĂźl Mutlu (3435425)
Sarah Bowdin (524929)
Nursel Elcioglu (214959)
Gulsen Tayfun (3435404)
Sevinc Atik (3435416)
Mustafa Ozen (589386)
Ferda Ozkinay (214965)
Yasemin Alanay (3435407)
Hulya Kayserili (3435413)
Steffen Thiel (12664)
Mustafa Tekin (114701)

September 2015

Pedigrees of the studied families. Figure S2. Electropherograms showing detected pathogenic variants...

Additional file 2: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Figure S1. Electrophoregram of the proband. It is an electrophoregram of the numbers of CAG repeats ...

Additional file 2: of Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Kit Yeung (4709332)
Winnie Tso (2816830)
Janice Ip (4709338)
Christopher Mak (4176853)
Gordon Leung (4176850)
Mandy Tsang (4709341)
Dingge Ying (367133)
Steven Pei (4709329)
So Lee (3777079)
Wanling Yang (50598)
Brian Chung (4709335)

December 2017

Bi-allelic PTEN mutations in patient 3. The file consists of WES reads and clonal sequencing data to...

Additional file 6: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Electropherograms showing partial sequences of SOX10. Subject II:3 (a) has a homozygous G (indicated...

Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield (5401382)
Kyriakie Sarafoglou (5401379)
Laura Speltz (5401388)
Elizabeth Pierpont (5401394)
Joan Steyermark (5401376)
David Nascene (5401385)
Matthew Bower (487566)
Mary Pierpont (5401391)

June 2018

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...

Additional file 3: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Hayer, Stefanie Nicole
Deconinck, Tine
Bender, Benjamin
Smets, Katrien
Züchner, Stephan
Reich, Selina
Schöls, Ludger
Schüle, Rebecca
De Jonghe, Peter
Baets, Jonathan
Synofzik, Matthis

February 2017

Background: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostas...

Additional file 1: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...

Additional file 1: of Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Matthias Kettwig (3534107)
Orly Elpeleg (324361)
Eike Wegener (679425)
Steffi Dreha-Kulaczewski (3534110)
Marco Henneke (699749)
Jutta GĂ¤rtner (3534104)
Peter Huppke (679428)

May 2016

Methods â Description of Quantitative magnetization transfer (MT) imaging, proton MR-spectroscopy,...

Additional file 3: of Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Marc Woodbury-Smith (4583911)
Eric Deneault (4583908)
Ryan Yuen (4583902)
Susan Walker (469919)
Mehdi Zarrei (3431519)
Giovanna Pellecchia (345990)
Jennifer Howe (625602)
Ny Hoang (4583899)
Mohammed Uddin (192247)
Christian Marshall (137748)
Christina Chrysler (4583914)
Ann Thompson (4583905)
Peter Szatmari (364570)
Stephen Scherer (3431540)

November 2017

RAB39B4_vs_Controls6_RPKM_Filt.txt (differential expression analysis results) (TXT 4721 kb

Additional file 1: of Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Aoife Kiely (3523265)
Helen Ling (3523283)
Yasmine Asi (3523280)
Eleanna Kara (3523286)
Christos Proukakis (3426071)
Anthony Schapira (3523274)
Huw Morris (3523277)
Helen Roberts (446195)
Steven Lubbe (218843)
Patricia Limousin (291853)
Patrick Lewis (129977)
Andrew Lees (184562)
Niall Quinn (3523268)
John Hardy (23295)
Seth Love (122101)
Tamas Revesz (639474)
Henry Houlden (110428)
Janice Holton (3523271)

August 2015

A, Double immunofluorescence images of ubiquitin (green) with α-synuclein (red) in a representative ...

Additional file 3: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Pedigree of the family in this study. Round and square symbols indicate females and males, respectiv...

Additional file 4: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Summary of the eight candidate variants in the proband that were detected by whole exome sequencing....

Additional file 1: of Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Giuseppe Di Fede (379151)
Marcella Catania (332106)
Cristiana Atzori (6173564)
Fabio Moda (332100)
Claudio Pasquali (287052)
Antonio Indaco (840435)
Marina Grisoli (6173567)
Marta Zuffi (6173570)
Maria Guaita (6173573)
Roberto Testi (6173579)
Stefano Taraglio (212108)
Maria Sessa (5883026)
Graziano Gusmaroli (6173588)
Mariacarmela Spinelli (6173591)
Giulia Salzano (6173594)
Giuseppe Legname (26814)
Roberto Tarletti (6173597)
Laura Godi (6173600)
Maurizio Pocchiari (274956)
Fabrizio Tagliavini (47154)
Daniele Imperiale (212074)
Giorgio Giaccone (379152)

January 2019

Figure S1. Neuropathology of case 3. The neuropathological study on brain sample from case 3 showed ...

Francesco Vetrini (5802755)
Shane McKee (6413240)
Jill Rosenfeld (2633302)
Mohnish Suri (122274)
Andrea Lewis (6413243)
Kimberly Nugent (4355395)
Elizabeth Roeder (627672)
Rebecca Littlejohn (6413246)
Sue Holder (6413249)
Wenmiao Zhu (6413252)
Joseph Alaimo (6413255)
Brett Graham (3853039)
Jill Harris (6413258)
James Gibson (6253595)
Matthew Pastore (6413261)
Kim McBride (6413264)
Makanko Komara (6413267)
Lihadh Al-Gazali (214926)
Aisha Shamsi (6413270)
Elizabeth Fanning (6413273)
Klaas Wierenga (4268920)
Daryl Scott (6413276)
Ziva Ben-Neriah (178833)
Vardiella Meiner (543242)
Hanoch Cassuto (6279494)
Orly Elpeleg (324361)
J. Holder (5148269)
Lindsay Burrage (3572936)
Laurie Seaver (6413279)
Lionel Maldergem (6413282)
Sonal Mahida (6413285)
Janet Soul (6413288)
Margaret Marlatt (6413291)
Ludmila Matyakhina (28021)
Julie Vogt (4405636)
June-Anne Gold (6413294)
Soo-Mi Park (6413297)
Vinod Varghese (6413300)
Anne Lampe (6413303)
Ajith Kumar (585765)
Melissa Lees (2636728)
Muriel Holder-Espinasse (120257)
Vivienne McConnell (39876)
Birgitta Bernhard (6413306)
Ed Blair (6413309)
Victoria Harrison (6413312)
Donna Muzny (54293)
Richard Gibbs (144333)
Sarah Elsea (162372)
Jennifer Posey (3422258)
Weimin Bi (162353)
Seema Lalani (3572948)
Fan Xia (219575)
Yaping Yang (292220)
Christine Eng (2633299)
James Lupski (3422270)
Pengfei Liu (136115)

March 2019

Clinical information. Clinical presentation of the subjects in this study. Table S1. Phenotypes for ...

Additional file 1: Figure S1. of Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Tahir Atik (824928)
Asuman Koparir (3435422)
Guney Bademci (222766)
Joseph Foster (3435410)
Umut Altunoglu (3435401)
GĂźl Mutlu (3435425)
Sarah Bowdin (524929)
Nursel Elcioglu (214959)
Gulsen Tayfun (3435404)
Sevinc Atik (3435416)
Mustafa Ozen (589386)
Ferda Ozkinay (214965)
Yasemin Alanay (3435407)
Hulya Kayserili (3435413)
Steffen Thiel (12664)
Mustafa Tekin (114701)

September 2015

Pedigrees of the studied families. Figure S2. Electropherograms showing detected pathogenic variants...

Additional file 2: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Figure S1. Electrophoregram of the proband. It is an electrophoregram of the numbers of CAG repeats ...

Additional file 2: of Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Kit Yeung (4709332)
Winnie Tso (2816830)
Janice Ip (4709338)
Christopher Mak (4176853)
Gordon Leung (4176850)
Mandy Tsang (4709341)
Dingge Ying (367133)
Steven Pei (4709329)
So Lee (3777079)
Wanling Yang (50598)
Brian Chung (4709335)

December 2017

Bi-allelic PTEN mutations in patient 3. The file consists of WES reads and clonal sequencing data to...

Additional file 6: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Noriomi Suzuki (5269688)
Hideki Mutai (723246)
Fuyuki Miya (345750)
Tatsuhiko Tsunoda (128303)
Hiroshi Terashima (1566964)
Noriko Morimoto (4842384)
Tatsuo Matsunaga (533009)

May 2018

Electropherograms showing partial sequences of SOX10. Subject II:3 (a) has a homozygous G (indicated...

Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield (5401382)
Kyriakie Sarafoglou (5401379)
Laura Speltz (5401388)
Elizabeth Pierpont (5401394)
Joan Steyermark (5401376)
David Nascene (5401385)
Matthew Bower (487566)
Mary Pierpont (5401391)

June 2018

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...

Additional file 3: of Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang (276130)
Lei Zhang (38117)
Yanqing Wu (582089)
Gang Li (34549)
Shengcai Chen (6031976)
Yuanpeng Xia (6031979)
Hongge Li (437334)

November 2018

Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...

Additional file 3: of STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Abstract

Extracted data

Additional file 3: of STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Abstract

Extracted data

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