المؤلفون: Park, Julien, Bremova-Ertl, Tatiana, Brands, Marion, Foltan, Tomas, Gautschi, Matthias, Gissen, Paul, Hahn, Andreas, Jones, Simon, Arash-Kaps, Laila, Kolnikova, Miriam, Patterson, Marc, Perlman, Susan, Ramaswami, Uma, Reichmannová, Stella, Rohrbach, Marianne, Schneider, Susanne, Shaikh, Aasef, Sivananthan, Siyamini, Synofzik, Matthis, Walterfarng, Mark, Wibawa, Pierre, Martakis, Kyriakos, Manto, Mario

المصدر: Journal of Neurology. 271(10)

مصطلحات موضوعية: Clinical outcome assessments, Lysosomal storage disorders, Scale for the assessment and rating of ataxia, Humans, Reproducibility of Results, Male, Female, Ataxia, Severity of Illness Index, Adult, Lysosomal Storage Diseases, Outcome Assessment, Health Care, Adolescent, Child, Young Adult, Cohort Studies, Child, Preschool, Middle Aged

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/378694xd
https://escholarship.org/content/qt378694xd/qt378694xd.pdf

المؤلفون: Mole, Sara E, Schulz, Angela, Badoe, Eben, Berkovic, Samuel F, de Los Reyes, Emily C, Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M, Mason, Heather L, Mink, Jonathan W, Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E, Scarpa, Maurizio, Scheffer, Ingrid E, Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y, Williams, Ruth E

المصدر: Orphanet Journal of Rare Diseases. 16(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, Clinical Research, 7.3 Management and decision making, Management of diseases and conditions, Good Health and Well Being, Consensus, Humans, Neuronal Ceroid-Lipofuscinoses, Tripeptidyl-Peptidase 1, Expert mapping, Guideline development program, CLN2, Batten, Neurodegenerative disorder, Key Opinion Leader, Modified-Delphi, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1q46m0ft
https://escholarship.org/content/qt1q46m0ft/qt1q46m0ft.pdf

المؤلفون: Gissen, David

المصدر: Quaderns d'arquitectura i urbanisme; 2011: Núm.: 262; p. 62-64

وصف الملف: text/html; application/pdf

Relation: https://www.raco.cat/index.php/QuadernsArquitecturaUrbanisme/article/view/245258/328481; https://www.raco.cat/index.php/QuadernsArquitecturaUrbanisme/article/view/245258/376638

URL الوصول: https://www.raco.cat/index.php/QuadernsArquitecturaUrbanisme/article/view/245258

المؤلفون: Wilson, MP, Footitt, EJ, Papandreou, A, Uudeleppt, ML, Pressler, R, Stevenson, DC, Gabriel, C, McSweeney, M, Baggot, M, Burke, D, Stodberg, T, Riney, K, Schiff, M, Heales, SJR, Mills, KA, Gissen, P, Clayton, PT, Mills, PB

المصدر: Analytical chemistry. 89(17):8892-8900

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136565751

المؤلفون: McKiernan Patrick J, Chakrapani Anupam, Sun Yu, Wilson Martin, Davies Nigel P, Davison James E, Walter John H, Gissen P, Peet Andrew C

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 19 (2011)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/6/1/19; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8564aebcbbce4946845721421bb04261

المؤلفون: Wibbeler, Eva, Wang, Raymond, de los Reyes, Emily, Specchio, Nicola, Gissen, Paul, Guelbert, Norberto, Nickel, Miriam, Schwering, Christoph, Lehwald, Lenora, Trivisano, Marina, Lee, Laura, Amato, Gianni, Cohen-Pfeffer, Jessica, Shediac, Renée, Leal-Pardinas, Fernanda, Schulz, Angela

المصدر: Journal of Child Neurology. 36(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Genetics, Neurodegenerative, Aging, Orphan Drug, Neurological, Child, Child, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Follow-Up Studies, Humans, Internationality, Male, Neuronal Ceroid-Lipofuscinoses, Recombinant Proteins, Retrospective Studies, Treatment Outcome, neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/66g4w681
https://escholarship.org/content/qt66g4w681/qt66g4w681.pdf

المؤلفون: Schulz, A, Specchio, N, de los Reyes, E, Gissen, P, Nickel, M, Trivisano, M, Aylward, SC, Chakrapani, A, Schwering, C, Wibbeler, E, Westermann, LM, Ballon, DJ, Dyke, JP, Cherukuri, A, Bondade, S, Slasor, P, Cohen Pfeffer, J

المصدر: Lancet Neurology , 23 (1) pp. 60-70. (2024)

مصطلحات موضوعية: Humans, Male, Female, Neuronal Ceroid-Lipofuscinoses, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Tripeptidyl-Peptidase 1, Recombinant Proteins

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10186205/1/THELANCETNEUROLOGY-D-23-00210_R3.pdf; https://discovery.ucl.ac.uk/id/eprint/10186205/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186205/1/THELANCETNEUROLOGY-D-23-00210_R3.pdf
https://discovery.ucl.ac.uk/id/eprint/10186205/

المؤلفون: Baruteau, J, Brunetti-Pierri, N, Gissen, P

المصدر: Journal of Inherited Metabolic Disease , 47 (1) pp. 9-21. (2024)

مصطلحات موضوعية: genome editing/insertion, inherited metabolic disease, liver gene therapy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10185756/1/Liver%20directed%20gene%20therapy%20for%20inherited%20metabolic%20diseases.pdf; https://discovery.ucl.ac.uk/id/eprint/10185756/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10185756/1/Liver%20directed%20gene%20therapy%20for%20inherited%20metabolic%20diseases.pdf
https://discovery.ucl.ac.uk/id/eprint/10185756/

المؤلفون: Gurung, S, Timmermand, OV, Perocheau, D, Gil-Martinez, AL, Minnion, M, Touramanidou, L, Fang, S, Messina, M, Khalil, Y, Spiewak, J, Barber, AR, Edwards, RS, Pinto, PL, Finn, PF, Cavedon, A, Siddiqui, S, Rice, L, Martini, PGV, Ridout, D, Heywood, W, Hargreaves, I, Heales, S, Mills, PB, Waddington, SN, Gissen, P, Eaton, S, Ryten, M, Feelisch, M, Frassetto, A, Witney, TH, Baruteau, J

المصدر: Science Translational Medicine , 16 (729) , Article eadh1334. (2024)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10178381/1/STM.pdf; https://discovery.ucl.ac.uk/id/eprint/10178381/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10178381/1/STM.pdf
https://discovery.ucl.ac.uk/id/eprint/10178381/

المؤلفون: Mills, PB, Camuzeaux, SSM, Footitt, EJ, Mills, KA, Gissen, P, Fisher, L, Das, KB, Varadkar, SM, Zuberi, S, McWilliam, R, Stodberg, T, Plecko, B, Baumgartner, MR, Maier, O, Calvert, S, Riney, K, Wolf, NI, Livingston, JH, Bala, P, Morel, CF, Feillet, F, Raimondi, F, Del Giudice, E, Chong, WK, Pitt, M, Clayton, PT

المصدر: Brain : a journal of neurology. 137(Pt 5):1350-1360

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129026473

المؤلفون: Cullinane, AR, Straatman-Iwanowska, A, Seo, JK, Ko, JS, Song, KS, Gizewska, M, Gruszfeld, D, Gliwicz, D, Tuysuz, B, Erdemir, G, Sougrat, R, Wakabayashi, Y, Hinds, R, Barnicoat, A, Mandel, H, Chitayat, D, Fischler, B, Garcia-Cazorla, A, Knisely, AS, Kelly, DA, Maher, ER, Gissen, P

المصدر: Human mutation. 30(2):E330-E337

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:120988997

المؤلفون: Morfopoulou, S, Buddle, S, Torres Montaguth, OE, Atkinson, L, Guerra-Assunção, JA, Moradi Marjaneh, M, Zennezini Chiozzi, R, Storey, N, Campos, L, Hutchinson, JC, Counsell, JR, Pollara, G, Roy, S, Venturini, C, Antinao Diaz, JF, Siam, A, Tappouni, LJ, Asgarian, Z, Ng, J, Hanlon, KS, Lennon, A, McArdle, A, Czap, A, Rosenheim, J, Andrade, C, Anderson, G, Lee, JCD, Williams, R, Williams, CA, Tutill, H, Bayzid, N, Martin Bernal, LM, Macpherson, H, Montgomery, K-A, Moore, C, Templeton, K, Neill, C, Holden, M, Gunson, R, Shepherd, SJ, Shah, P, Cooray, S, Voice, M, Steele, M, Fink, C, Whittaker, TE, Santilli, G, Gissen, P, Kaufer, BB, Reich, J, Andreani, J, Simmonds, P, Paulus, SC, Pollard, AJ, Hopton, S, Miller, D, Oliver, Z, Beer, S, Ward, B, Lubinda, T, Kelly, S, O’Reilly, P, Kandasamy, R, Carter, MJ, O’Connor, D, Bibi, S, Kelly, DF, Carson, G, Merson, L

المساهمون: Consortium, DIAMONDS, Consortium, PERFORM, Investigators, ISARIC 4C

مصطلحات موضوعية: Paediatric research, Clinical microbiology

Relation: https://ora.ox.ac.uk/objects/uuid:8ccd1706-5151-4bd6-91d2-17ea8bba0b0c; https://doi.org/10.1038/s41586-023-06003-w

الاتاحة: https://doi.org/10.1038/s41586-023-06003-w
https://ora.ox.ac.uk/objects/uuid:8ccd1706-5151-4bd6-91d2-17ea8bba0b0c

المؤلفون: Messina, M, Gissen, P

المصدر: Drugs of Today , 59 (2) pp. 63-70. (2023)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Pharmacology & Pharmacy, Atidarsagene autotemcel, Metachromatic leukodystrophy, Arylsulfatase A (ARSA) mimetics, Lysosomal storage diseases, Gene therapy, LYSOSOMAL STORAGE DISORDERS, CELL GENE-THERAPY, OPEN-LABEL

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168772/2/Gissen_Atidarsagene%20autotemcel%20for%20metachromatic%20leukodystrophy_accepted%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/10168772/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168772/2/Gissen_Atidarsagene%20autotemcel%20for%20metachromatic%20leukodystrophy_accepted%20version.pdf
https://discovery.ucl.ac.uk/id/eprint/10168772/

المؤلفون: Eichler, Florian, Duncan, Christine, Musolino, Patricia L, Orchard, Paul J, De Oliveira, Satiro, Thrasher, Adrian J, Armant, Myriam, Dansereau, Colleen, Lund, Troy C, Miller, Weston P, Raymond, Gerald V, Sankar, Raman, Shah, Ami J, Sevin, Caroline, Gaspar, H Bobby, Gissen, Paul, Amartino, Hernan, Bratkovic, Drago, Smith, Nicholas JC, Paker, Asif M, Shamir, Esther, O'Meara, Tara, Davidson, David, Aubourg, Patrick, Williams, David A

المصدر: New England Journal of Medicine. 377(17)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Transplantation, Rare Diseases, Biotechnology, Genetics, Clinical Research, Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, Brain Disorders, Neurosciences, Regenerative Medicine, Stem Cell Research - Nonembryonic - Human, Evaluation of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, 6.2 Cellular and gene therapies, ATP Binding Cassette Transporter, Subfamily D, Member 1, ATP-Binding Cassette Transporters, Adolescent, Adrenoleukodystrophy, Antigens, CD34, Biomarkers, Child, Combined Modality Therapy, Genetic Therapy, Genetic Vectors, Granulocyte Colony-Stimulating Factor, Hematopoietic Stem Cell Transplantation, Hematopoietic Stem Cells, Humans, Lentivirus, Male, Polymerase Chain Reaction, Transplantation, Autologous, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2kk2q18z

المؤلفون: Lorvellec, M, Pellegata, AF, Maestri, A, Turchetta, C, Mediavilla, EA, Shibuya, S, Jones, B, Scottoni, F, Perocheau, DP, Cozmescu, AC, Delhove, JM, Kysh, D, Gjinovci, A, Counsell, JR, Heywood, WE, Mills, K, McKay, TR, De Coppi, P, Gissen, P

المصدر: iScience. 23(12):101808

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145654629

المؤلفون: Seker Yilmaz, B., Baruteau, J., Arslan, N., Aydin, H. I., Barth, M., Bozaci, A. E., Brassier, A., Canda, E., Cano, A., Chronopoulou, E., Connolly, G. M., Damaj, L., Dawson, C., Dobbelaere, Dries, Douillard, C., Eminoglu, F. T., Erdol, S., Ersoy, M., Fang, S., Feillet, F., Gokcay, G., Goksoy, E., Gorce, M., Inci, A., Kadioglu, B., Kardas, F., Kasapkara, C. S., Kilic Yildirim, G., Kor, D., Kose, M., Marelli, C., Mundy, H., O'Sullivan, S., Ozturk Hismi, B., Ramachandran, R., Roubertie, A., Sanlilar, M., Schiff, M., Sreekantam, S., Stepien, K. M., Uzun Unal, O., Yildiz, Y., Zubarioglu, T., Gissen, P.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 2075-1729 ; Life ; https://hal.univ-lille.fr/hal-04748299 ; Life, 2022, Life (Basel), 12, ⟨10.3390/life12111721⟩.

مصطلحات موضوعية: ornithine transcarbamylase deficiency, hyperammonaemia, neonatal-onset, late-onset, asymptomatic, protein restriction, ammonia scavengers, liver transplantation, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36362876; PUBMED: 36362876

الاتاحة: https://hal.univ-lille.fr/hal-04748299
https://hal.univ-lille.fr/hal-04748299v1/document
https://hal.univ-lille.fr/hal-04748299v1/file/life-12-01721-v2.pdf
https://doi.org/10.3390/life12111721

المؤلفون: van Vliet, K., van Ginkel, W.G., Jahja, R., Daly, A., MacDonald, A., Santra, S., De Laet, C., Goyens, P.J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., van Hasselt, P.M., Wilcox, G., Morris, A.A.M., Jameson, E.A., de la Parra, A., Arias, C., Garcia, M.I., Cornejo, V., Bosch, A.M., Hollak, C.E.M., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., Hofstede, F.C., de Vries, M.C., Janssen, M.C.H., van der Ploeg, A.T., Langendonk, J.G., Huijbregts, S.C.J., van Spronsen, F.J.

المصدر: van Vliet , K , van Ginkel , W G , Jahja , R , Daly , A , MacDonald , A , Santra , S , De Laet , C , Goyens , P J , Vara , R , Rahman , Y , Cassiman , D , Eyskens , F , Timmer , C , Mumford , N , Gissen , P , Bierau , J , van Hasselt , P M , Wilcox , G , Morris , A A M , Jameson , E A , de la Parra , A , Arias , C ....

مصطلحات موضوعية: Amsterdam Neuropsychological Tasks, executive functions, neurocognitive outcome, phenylketonuria, social cognition, tyrosinemia type 1, TREATED PHENYLKETONURIA, ADULT PHENYLKETONURIA, NTBC TREATMENT, PHENYLALANINE, NITISINONE, INHIBITION, MANAGEMENT, PROFILE

Relation: https://cris.maastrichtuniversity.nl/en/publications/cbf19ef0-8cf6-4720-97f5-e3dcfdf981f4

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/cbf19ef0-8cf6-4720-97f5-e3dcfdf981f4
https://doi.org/10.1002/jimd.12528

المؤلفون: Brunetti-Pierri, N, Gissen, P

المصدر: Methods & Clinical Development , 27 pp. 488-490. (2022)

مصطلحات موضوعية: gene therapy, hydrodynamic injections, hydrodynamic retrograde intrabiliary injection, nonviral vectors, ornithine transcarbamylase deficiency

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10161458/1/1-s2.0-S2329050122001619-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10161458/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10161458/1/1-s2.0-S2329050122001619-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10161458/

المؤلفون: Stapley, RJ, Poulter, NS, Khan, AO, Smith, CW, Bignell, P, Fratter, C, Lester, W, Lowe, G, Morgan, NV, Morgan, N, Watson, S, Harrison, P, Lordkipanidze, M, Mumford, AD, Mundell, SJ, Gissen, P, Daly, ME, Clark, J, Williams, M, Motwani, J, Marshall, D, Lawson, N, Nyatanga, P, Mann, P, Kirwan, J, Percy, C, Green, P, Hupston, H, Nagapachetty, K, Dwenger, E, Rourke, AO, Pope, M, Edmead,, C, Greenway, A, Makris, M, Payne, J, Pavord, S, Gooding,, R, Dattani, R, Grimley, GDC, Stokley, S, Astwood, E, Longmuir, K, Chang, C, Foros, M, Kightley,, M, Trower, L, Thachil, J, Bolton Maggs, P, Hay, C, Pike, G, Will, A, Grainger, J, Foulkes, M, Fareh, M, Talks, K, Biss, T, Kesteven, P, Hanley, J, Vowles, J, Basey, L, Knaggs, K, Barnes, M, Collins, P, Rayment, R, Alikhan, R, Rebecca Morris, AG, Mansell, D, Toh, CH, Martlew, V, Murphy, E, Lachmann, R, Rose, P, Chapman, O, Lokare, A, Marshall, K, Khan, N, Keeling, D, Curry,, N, Giangrande, P, Austin, S, Bevan,, D, Alamelu, J, Allsup, D, Fletcher, A, Gladstone, K, Fenwick, J, Woods,, P, Camp, D, James, B, Preston, S, Spencer, C, Pike,, A, Lai-Wah, C, Thomas, A, Myers, B, Evans, G, Elliot, K, Davies, K, Graham,, C

المصدر: Journal of Thrombosis and Haemostasis , 20 (2) pp. 478-485. (2022)

مصطلحات موضوعية: bleeding, cytoskeleton, next generation sequencing, platelet disorder, platelet dysfunction, TPM4

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10152651/1/J%20of%20Thrombosis%20Haemost%20-%202021.pdf; https://discovery.ucl.ac.uk/id/eprint/10152651/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10152651/1/J%20of%20Thrombosis%20Haemost%20-%202021.pdf
https://discovery.ucl.ac.uk/id/eprint/10152651/

المؤلفون: Bolton, SC, Soran, V, Marfa, MP, Imrie, J, Gissen, P, Jahnova, H, Sharma, R, Jones, S, Santra, S, Crushell, E, Stampfer, M, Coll, MJ, Dawson, C, Mathieson, T, Green, J, Dardis, A, Bembi, B, Patterson, MC, Vanier, MT, Geberhiwot, T

المصدر: Orphanet Journal of Rare Diseases , 17 (1) , Article 51. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10144626/1/s13023-022-02200-4.pdf; https://discovery.ucl.ac.uk/id/eprint/10144626/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10144626/1/s13023-022-02200-4.pdf
https://discovery.ucl.ac.uk/id/eprint/10144626/