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1
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

Angelini, Corrado ; Tavian, Daniela ; Missaglia, Sara Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018, Vol.38, p.33-40 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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2
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
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Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

Angileri, Francesca ; Bergeron, Anne ; Morrow, Geneviève ; Lettre, Francine ; Gray, George ; Hutchin, Tim ; Ball, Sarah ; Tanguay, Robert M. Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 19, 2015, Vol.19, p.43-58 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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3
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
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ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

Galama, Wienke H. ; Verhaagen – van den Akker, Sandra L. J. ; Lefeber, Dirk J. ; Feenstra, Ilse ; Verrips, Aad Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.11-16 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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4
The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type Specific
The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type Specific
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The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type Specific

Ferreira, Susana ; Reguenga, Carlos ; Oliveira, João Paulo Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 23, 2015, Vol.23, p.27-34 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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5
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
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Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

Gupta, Neerja ; Singh, Pawan Kumar ; Kumar, Manoj ; Shastri, Shivaram ; Gulati, Sheffali ; Kumar, Atin ; Agarwala, Anuja ; Kapoor, Seema ; Nair, Mohandas ; Sapra, Savita ; Dubey, Sudhisha ; Singh, Ankur ; Kaur, Punit ; Kabra, Madhulika Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 21, 2015, Vol.21, p.45-55 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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6
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy
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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

Körver-Keularts, I. M. L. W. ; de Visser, M. ; Bakker, H. D. ; Wanders, R. J. A. ; Vansenne, F. ; Scholte, H. R. ; Dorland, L. ; Nicolaes, G. A. F. ; Spaapen, L. M. J. ; Smeets, H. J. M. ; Hendrickx, A. T. M. ; van den Bosch, B. J. C. Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 22, 2015, Vol.22, p.39-45 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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7
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
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Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

Higuchi, Takashi ; Kobayashi, Masahisa ; Ogata, Jin ; Kaneshiro, Eiko ; Shimada, Yohta ; Kobayashi, Hiroshi ; Eto, Yoshikatsu ; Maeda, Shiro ; Ohtake, Akira ; Ida, Hiroyuki ; Ohashi, Toya Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 30, 2016, Vol.30, p.63-72 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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8
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability
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Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Blumkin, Lubov ; Leshinsky-Silver, Esther ; Zerem, Ayelet ; Yosovich, Keren ; Lerman-Sagie, Tally ; Lev, Dorit Peters, Verena ; Gibson, K. Michael ; Brown, Garry ; Zschocke, Johannes ; Morava, Eva ; Peters, Verena ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry ; Morava, Eva

JIMD Reports - Volume 12, 2014, Vol.12, p.103-107 [Peer Reviewed Journal]

Switzerland: Springer International Publishing AG

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9
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
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Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers

Castro-Ferreira, I. ; Carmo, Rute ; Silva, Sérgio Estrela ; Corrêa, Otília ; Fernandes, Susana ; Sampaio, Susana ; Pedro, Rodrigues-Pereira ; Praça, Augusta ; Oliveira, João Paulo Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.55-62 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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10
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
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Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

Maxit, C. ; Denzler, I. ; Marchione, D. ; Agosta, G. ; Koster, J. ; Wanders, R. J. A. ; Ferdinandusse, S. ; Waterham, H. R. Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 34, 2017, Vol.34, p.71-75 [Peer Reviewed Journal]

Germany: Springer Berlin / Heidelberg

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