Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Additional file 4: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Taqman-based genotyping assays used to establish unique patient identities. (DOCX 17Â kb

Additional file 3: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Primers used to sequence the ATP1A3 exons and adjacent splice sites. (DOCX 18Â kb

Additional file 2: Figure S1. of A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Yu-Ri Choi (665023)
Young Hong (3429941)
Sung-Chul Jung (785337)
Ja Lee (3429947)
Ye Kim (3429935)
Hyung Park (3429938)
Jinho Lee (587173)
Heasoo Koo (2143837)
Ji-Su Lee (730564)
Dong Jwa (3429932)
Namhee Jung (589929)
So-Youn Woo (3429944)
Sang-Beom Kim (697033)
Ki Chung (3429929)
Byung-Ok Choi (516331)

October 2015

(a) Changes in the mitochondrial OXPHOS system. Western blotting using OXPHOS detection cocktail ant...

Additional file 6: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Hugh McMillan (5280101)
Aida Telegrafi (5520248)
Amanda Singleton (5520269)
Megan Cho (5520251)
Daniel Lelli (5520242)
Francis Lynn (5520272)
Julie Griffin (5520233)
Alexander Asamoah (5520254)
Tuula Rinne (243480)
Corrie Erasmus (5520236)
David Koolen (4706029)
Charlotte Haaxma (5520260)
Boris Keren (374547)
Diane Doummar (1777717)
Cyril Mignot (3416648)
Islay Thompson (5520239)
Lea Velsher (5520257)
Mohammadreza Dehghani (4446685)
Mohammad Vahidi Mehrjardi (5520266)
Reza Maroofian (5237852)
Michel Tchan (5520224)
Cas Simons (36269)
John Christodoulou (450398)
Elena MartĂn-HernĂĄndez (5520302)
Maria Guillen Sacoto (5520227)
Lindsay Henderson (4446877)
Heather McLaughlin (5520263)
Laurie Molday (5520230)
Robert Molday (4167616)
Grace Yoon (802408)

May 2018

Supplementary Data - additional clinical histories. Figure S1. Expression of FOXA2 and SOX17 in diff...

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

McMillan, H.J.
Telegrafi, A.
Singleton, A.
Cho, M.T.
Lelli, D.
Lynn, F.C.
Griffin, J.
Asamoah, A.
Rinne, T.K.
Erasmus, C.E.
Koolen, D.A.
Haaxma, C.A.
Keren, B.
Doummar, D.
Mignot, C.
Thompson, I.
Velsher, L.
Dehghani, M.
Mehrjardi, M.Y.V.
Maroofian, R.
Tchan, M.
Simons, C.
Christodoulou, J.
Martin-Hernandez, E.
Guillen Sacoto, M.J.
Henderson, L.B.
McLaughlin, H.
Molday, L.L.
Molday, R.S.
Yoon, G.

January 2018

Contains fulltext : 196429.pdf (publisher's version ) (Open Access)BACKGROUND: ATP...

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan, HJ
Telegrafi, A
Singleton, A
Cho, MT
Lelli, D
Lynn, FC
Griffin, J
Asamoah, A
Rinne, T
Erasmus, CE
Koolen, DA
Haaxma, CA
Keren, B
Doummar, D
Mignot, C
Thompson, I
Velsher, L
Dehghani, M
Vahidi Mehrjardi, MY
Maroofian, R
Tchan, M
Simons, C
Christodoulou, J
Martín-Hernández, E
Guillen Sacoto, MJ
Henderson, LB
McLaughlin, H
Molday, LL
Molday, RS
Yoon, G

May 2018

BACKGROUND: ATP8A2 mutations have recently been described in several patients with severe, early-ons...

Additional file 1: of A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Vishal Tewari (5060465)
Ritu Mehta (5060462)
C. Sreedhar (5060468)
Kunal Tewari (5060459)
Akbar Mohammad (2796796)
Neerja Gupta (53651)
Sheffali Gulati (136240)
Madhulika Kabra (53650)

April 2018

Video clip of the child. Child at the age of 5Â year 10Â months showing ataxic gait, nystagmus, trem...

Additional file 5: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Clinical phenotype of patients with the three most common mutations, and of patients without and wit...

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava, E.
Rodenburg, R.J.T.
Hol, F.A.
Vries, M. de
Janssen, A.
Heuvel, L.P.W.J. van den
Nijtmans, L.G.J.
Smeitink, J.A.M.

January 2006

Contains fulltext : 50848.pdf (publisher's version ) (Closed access)We retrospecti...

Additional file 1: of A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Qin Wang (109812)
Jingxin Yang (5940116)
Yang Liu (4829)
Xingping Li (5940119)
Fuwei Luo (5940122)
Jiansheng Xie (105263)

November 2018

Figure S1. A. Gesell developmental scale evaluated the proband as severely developmentally delayed. ...

Additional file 2: of Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Xiao-dan Long (5572244)
Jing Xiong (218613)
Zhao-hui Mo (5572247)
Chang-sheng Dong (5572250)
Ping Jin (30857)

July 2018

Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...

Additional file 1: of A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

Jung-Eun Moon (5413832)
Su-Jeong Lee (4856275)
Cheol Ko (5413835)

June 2018

Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mu...

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

Castro, M.J.
Figueiredo Nunes, P.M.
Vries, B. de
Lemos, C.
Vanmolkot, K.R.
Heuvel, J.J.M.W. van den
Temudo, T.
Barros, J.
Sequeiros, J.
Frants, R.R.
Koenderink, J.B.
Pereira-Monteiro, J.M.
Maagdenberg, A.M.J.M. van den

January 2008

Contains fulltext : 70562.pdf (publisher's version ) (Closed access)Mutations in t...

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...

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere, A.I.
Hogeveen, M.
Nijtmans, L.G.J.
Brand, M.A.M. van den
Janssen, A.J.M.
Diepstra, J.H.S.
Brandt, F.C. van den
Heuvel, L.P.W.J. van den
Hol, F.A.
Hofste, T.G.
Kapusta, L.
Dillmann, U.
Shamdeen, M.G.
Smeitink, J.A.M.
Rodenburg, R.J.T.

January 2008

Contains fulltext : 69169.pdf (publisher's version ) (Closed access)PURPOSE: To id...

Additional file 4: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Taqman-based genotyping assays used to establish unique patient identities. (DOCX 17Â kb

Additional file 3: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Primers used to sequence the ATP1A3 exons and adjacent splice sites. (DOCX 18Â kb

Additional file 2: Figure S1. of A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Yu-Ri Choi (665023)
Young Hong (3429941)
Sung-Chul Jung (785337)
Ja Lee (3429947)
Ye Kim (3429935)
Hyung Park (3429938)
Jinho Lee (587173)
Heasoo Koo (2143837)
Ji-Su Lee (730564)
Dong Jwa (3429932)
Namhee Jung (589929)
So-Youn Woo (3429944)
Sang-Beom Kim (697033)
Ki Chung (3429929)
Byung-Ok Choi (516331)

October 2015

(a) Changes in the mitochondrial OXPHOS system. Western blotting using OXPHOS detection cocktail ant...

Additional file 6: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Hugh McMillan (5280101)
Aida Telegrafi (5520248)
Amanda Singleton (5520269)
Megan Cho (5520251)
Daniel Lelli (5520242)
Francis Lynn (5520272)
Julie Griffin (5520233)
Alexander Asamoah (5520254)
Tuula Rinne (243480)
Corrie Erasmus (5520236)
David Koolen (4706029)
Charlotte Haaxma (5520260)
Boris Keren (374547)
Diane Doummar (1777717)
Cyril Mignot (3416648)
Islay Thompson (5520239)
Lea Velsher (5520257)
Mohammadreza Dehghani (4446685)
Mohammad Vahidi Mehrjardi (5520266)
Reza Maroofian (5237852)
Michel Tchan (5520224)
Cas Simons (36269)
John Christodoulou (450398)
Elena MartĂn-HernĂĄndez (5520302)
Maria Guillen Sacoto (5520227)
Lindsay Henderson (4446877)
Heather McLaughlin (5520263)
Laurie Molday (5520230)
Robert Molday (4167616)
Grace Yoon (802408)

May 2018

Supplementary Data - additional clinical histories. Figure S1. Expression of FOXA2 and SOX17 in diff...

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

McMillan, H.J.
Telegrafi, A.
Singleton, A.
Cho, M.T.
Lelli, D.
Lynn, F.C.
Griffin, J.
Asamoah, A.
Rinne, T.K.
Erasmus, C.E.
Koolen, D.A.
Haaxma, C.A.
Keren, B.
Doummar, D.
Mignot, C.
Thompson, I.
Velsher, L.
Dehghani, M.
Mehrjardi, M.Y.V.
Maroofian, R.
Tchan, M.
Simons, C.
Christodoulou, J.
Martin-Hernandez, E.
Guillen Sacoto, M.J.
Henderson, L.B.
McLaughlin, H.
Molday, L.L.
Molday, R.S.
Yoon, G.

January 2018

Contains fulltext : 196429.pdf (publisher's version ) (Open Access)BACKGROUND: ATP...

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan, HJ
Telegrafi, A
Singleton, A
Cho, MT
Lelli, D
Lynn, FC
Griffin, J
Asamoah, A
Rinne, T
Erasmus, CE
Koolen, DA
Haaxma, CA
Keren, B
Doummar, D
Mignot, C
Thompson, I
Velsher, L
Dehghani, M
Vahidi Mehrjardi, MY
Maroofian, R
Tchan, M
Simons, C
Christodoulou, J
Martín-Hernández, E
Guillen Sacoto, MJ
Henderson, LB
McLaughlin, H
Molday, LL
Molday, RS
Yoon, G

May 2018

BACKGROUND: ATP8A2 mutations have recently been described in several patients with severe, early-ons...

Additional file 1: of A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Vishal Tewari (5060465)
Ritu Mehta (5060462)
C. Sreedhar (5060468)
Kunal Tewari (5060459)
Akbar Mohammad (2796796)
Neerja Gupta (53651)
Sheffali Gulati (136240)
Madhulika Kabra (53650)

April 2018

Video clip of the child. Child at the age of 5Â year 10Â months showing ataxic gait, nystagmus, trem...

Additional file 5: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Clinical phenotype of patients with the three most common mutations, and of patients without and wit...

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava, E.
Rodenburg, R.J.T.
Hol, F.A.
Vries, M. de
Janssen, A.
Heuvel, L.P.W.J. van den
Nijtmans, L.G.J.
Smeitink, J.A.M.

January 2006

Contains fulltext : 50848.pdf (publisher's version ) (Closed access)We retrospecti...

Additional file 1: of A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Qin Wang (109812)
Jingxin Yang (5940116)
Yang Liu (4829)
Xingping Li (5940119)
Fuwei Luo (5940122)
Jiansheng Xie (105263)

November 2018

Figure S1. A. Gesell developmental scale evaluated the proband as severely developmentally delayed. ...

Additional file 2: of Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Xiao-dan Long (5572244)
Jing Xiong (218613)
Zhao-hui Mo (5572247)
Chang-sheng Dong (5572250)
Ping Jin (30857)

July 2018

Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...

Additional file 1: of A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

Jung-Eun Moon (5413832)
Su-Jeong Lee (4856275)
Cheol Ko (5413835)

June 2018

Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mu...

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

Castro, M.J.
Figueiredo Nunes, P.M.
Vries, B. de
Lemos, C.
Vanmolkot, K.R.
Heuvel, J.J.M.W. van den
Temudo, T.
Barros, J.
Sequeiros, J.
Frants, R.R.
Koenderink, J.B.
Pereira-Monteiro, J.M.
Maagdenberg, A.M.J.M. van den

January 2008

Contains fulltext : 70562.pdf (publisher's version ) (Closed access)Mutations in t...

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...

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere, A.I.
Hogeveen, M.
Nijtmans, L.G.J.
Brand, M.A.M. van den
Janssen, A.J.M.
Diepstra, J.H.S.
Brandt, F.C. van den
Heuvel, L.P.W.J. van den
Hol, F.A.
Hofste, T.G.
Kapusta, L.
Dillmann, U.
Shamdeen, M.G.
Smeitink, J.A.M.
Rodenburg, R.J.T.

January 2008

Contains fulltext : 69169.pdf (publisher's version ) (Closed access)PURPOSE: To id...

Additional file 4: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Taqman-based genotyping assays used to establish unique patient identities. (DOCX 17Â kb

Additional file 3: of Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhoodâa study of 155 patients

Eleni Panagiotakaki (3484421)
Elisa De Grandis (3484418)
Michela Stagnaro (3484406)
Erin Heinzen (3484385)
Carmen Fons (3484409)
Sanjay Sisodiya (2735497)
Boukje de Vries (682382)
Christophe Goubau (3484415)
Sarah Weckhuysen (841411)
David Kemlink (213894)
Ingrid Scheffer (3484427)
GaĂŤtan Lesca (3484445)
Muriel Rabilloud (291555)
Amna Klich (3484388)
Alia Ramirez-Camacho (3484412)
Adriana Ulate-Campos (3484403)
Jaume Campistol (850035)
Melania Giannotta (3484379)
Marie-Laure Moutard (3484424)
Diane Doummar (1777717)
Cecile Hubsch-Bonneaud (3484397)
Fatima Jaffer (2575483)
Helen Cross (3484394)
Fiorella Gurrieri (3484391)
Danilo Tiziano (167810)
Sona Nevsimalova (213904)
Sophie Nicole (3484400)
Brian Neville (3484430)
Arn van den Maagdenberg (478401)
Mohamad Mikati (3484382)
David Goldstein (57135)
Rosaria Vavassori (3484376)
Alexis Arzimanoglou (95224)

September 2015

Primers used to sequence the ATP1A3 exons and adjacent splice sites. (DOCX 18Â kb

Additional file 2: Figure S1. of A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Yu-Ri Choi (665023)
Young Hong (3429941)
Sung-Chul Jung (785337)
Ja Lee (3429947)
Ye Kim (3429935)
Hyung Park (3429938)
Jinho Lee (587173)
Heasoo Koo (2143837)
Ji-Su Lee (730564)
Dong Jwa (3429932)
Namhee Jung (589929)
So-Youn Woo (3429944)
Sang-Beom Kim (697033)
Ki Chung (3429929)
Byung-Ok Choi (516331)

October 2015

(a) Changes in the mitochondrial OXPHOS system. Western blotting using OXPHOS detection cocktail ant...

Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Abstract

Extracted data

Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Abstract

Extracted data

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