Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard
Publikováno v:
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69
Autor:
Vijay Pagadala, Erin L. Heinzen, Melissa McLean, David M. Mueller, Kristin Herman, Lyndsey Prange, Raphael Schiffmann, Mohamad A. Mikati, David Goldstein, Vandana Shashi, Nicole M. Walley, Mary Moya Mendez, Arsen S. Hunanyan, Milton Pratt
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo describe a phenotype caused byATP1A3mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), an
Autor:
Orna Elroy-Stein, Raphael Schiffmann
Childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) disease is an autosomal recessive disorder characterized by progressive ataxia, spasticity, and, rarely, optic atrophy. Clinical disease onset can occur at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3e16c02da386228cfd59abc101878f8
https://doi.org/10.1016/b978-0-12-813866-3.00019-9
https://doi.org/10.1016/b978-0-12-813866-3.00019-9
Autor:
Fred Holdbrook, J. Charles Jennette, Jay A. Barth, Jeffrey P. Castelli, Robert B. Colvin, Kathleen Nicholls, Suma P. Shankar, Laura Barisoni, Daniel G. Bichet, Derralynn Hughes, Andrew E. Mulberg, Nina Skuban, Raphael Schiffmann, Ana Jovanovic, Ulla Feldt-Rasmussen, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Schiffmann, R, Bichet, D G, Jovanovic, A, Hughes, D A, Giugliani, R, Feldt-Rasmussen, U, Shankar, S P, Barisoni, L, Colvin, R B, Jennette, J C, Holdbrook, F, Mulberg, A, Castelli, J P, Skuban, N, Barth, J A & Nicholls, K 2018, ' Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial ', Orphanet Journal of Rare Diseases, vol. 13, 68 . https://doi.org/10.1186/s13023-018-0813-7
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, vol 13, iss 1
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Schiffmann, R, Bichet, D G, Jovanovic, A, Hughes, D A, Giugliani, R, Feldt-Rasmussen, U, Shankar, S P, Barisoni, L, Colvin, R B, Jennette, J C, Holdbrook, F, Mulberg, A, Castelli, J P, Skuban, N, Barth, J A & Nicholls, K 2018, ' Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial ', Orphanet Journal of Rare Diseases, vol. 13, 68 . https://doi.org/10.1186/s13023-018-0813-7
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, vol 13, iss 1
BACKGROUND: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.METHODS: W
Autor:
Heinrich Sticht, Reza Asadollahi, Laura Gogoll, Anita Rauch, Raphael Schiffmann, Markus Zweier, Katharina Steindl
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e643b41f31bafcae92afaa405ad0a9fe
http://gala.gre.ac.uk/id/eprint/36711/1/36711_ASADOLLAHI_Genotype_phenotype_evaluation.pdf
http://gala.gre.ac.uk/id/eprint/36711/1/36711_ASADOLLAHI_Genotype_phenotype_evaluation.pdf
Autor:
Roberto Giugliani, Dominique P. Germain, Kathleen Nicholls, Daniel G. Bichet, Jay A. Barth, Raphael Schiffmann, William R. Wilcox, Julie Yu, Nina Skuban, Derralynn Hughes, Jeffrey P. Castelli, Hadis Williams
Publikováno v:
Nephrology Dialysis Transplantation. 33:i347-i348
Autor:
Raphael Schiffmann, Jinping Lai, Martha Quezado, Geneviève Bernard, Adeline Vanderver, Kondi Wong, Christopher T. Rossi, Davide Tonduti, Giovanni A. Carosso
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 72:67-75
The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but t
Autor:
Matthew S. Pantell, Christopher K. Zalewski, Carmen C. Brewer, Saumil N. Merchant, Porcia T. Bradford, Deborah Tamura, Sikandar G. Khan, Tyler Mark Pierson, John J. DiGiovanna, Joseph B. Nadol, Edythe Wiggs, Andrew J. Griffith, Raphael Schiffmann, Mariam Totonchy, Kenneth H. Kraemer
Publikováno v:
Brain. 136:194-208
To assess the role of DNA repair in maintenance of hearing function and neurological integrity, we examined hearing status, neurological function, DNA repair complementation group and history of acute burning on minimal sun exposure in all patients w
Autor:
Suma P. Shankar, Ozlem Goker-Alpan, Marie T. McDonald, Peter Chang, Raphael Schiffmann, Yinghua Shen, Arian Pano, Nicola Longo
Publikováno v:
Drug Design, Development and Therapy
Ozlem Goker-Alpan,1 Nicola Longo,2 Marie McDonald,3 Suma P Shankar,4,5 Raphael Schiffmann,6 Peter Chang,7 Yinghua Shen,7 Arian Pano7 1Lysosomal Disorders Unit, Fairfax, VA, 2University of Utah, Salt Lake City, UT, 3Department of Pediatrics, Duke Univ
Autor:
Laurent Servais, Bénédicte Héron, Sandrine Vuillaumier, Elsa Kaphan, Domitille Gras, Emmanuel Roze, Raphael Schiffmann, Romain Valabregue, Elodie Hainque, Samantha Caillet, Chris Ottolenghi, Isaac M. Adanyeguh, Agathe Roubertie, Fanny Mochel, Jean-Yves Hogrel, Daisy Rinaldi
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (5), pp.550-553. ⟨10.1136/jnnp-2015-311475⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2016, 87 (5), pp.550-553. 〈10.1136/jnnp-2015-311475〉
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2016, 87 (5), pp.550-553. ⟨10.1136/jnnp-2015-311475⟩
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (5), pp.550-553. ⟨10.1136/jnnp-2015-311475⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2016, 87 (5), pp.550-553. 〈10.1136/jnnp-2015-311475〉
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2016, 87 (5), pp.550-553. ⟨10.1136/jnnp-2015-311475⟩
Journal of Neurology, Neurosurgery, and Psychiatry
Objective:On the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a14b7fc1b453e76eb7aba1c2fec7cd5
https://hal.sorbonne-universite.fr/hal-01325371
https://hal.sorbonne-universite.fr/hal-01325371