Works matching IS 17501172 AND DT 2017 AND VI 12

Results: 190

Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States.

Published in:

2017

By:

Lally, Cathy;
Jones, Cynthia;
Farwell, Wildon;
Reyna, Sandra P.;
Cook, Suzanne F.;
Flanders, W. Dana

Publication type:

journal article

Health-related quality of life among adults with diverse rare disorders.

Published in:

2017

By:

Bogart, Kathleen R.;
Irvin, Veronica L.

Publication type:

journal article

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation.

Published in:

2017

By:

Frew, John W.;
Davidson, Mark;
Murrell, Dedee F.

Publication type:

journal article

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review.

Published in:

2017

By:

Young, Andrea;
Menon, Devidas;
Street, Jackie;
Al-Hertani, Walla;
Stafinski, Tania

Publication type:

journal article

Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures.

Published in:

2017

By:

Morel, Thomas;
Cano, Stefan J.

Publication type:

journal article

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

Published in:

2017

By:

Janzen, Nils;
Hofmann, Alejandro D.;
Schmidt, Gunnar;
Das, Anibh M.;
Illsinger, Sabine

Publication type:

journal article

Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1.

Published in:

2017

By:

Rozza-de-Menezes, Rafaela E.;
Gaglionone, Nicolle C.;
Andrade-Losso, Raquel M.;
Siqueira, Orlando H. K.;
Almeida, Lilian M.;
da S. Peruzini, Kamila;
Guimarães-Filho, Marco A. C.;
Brum, Carolina I.;
Geller, Mauro;
Cunha, Karin S.;
Peruzini, Kamila da S

Publication type:

Letter

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients.

Published in:

2017

By:

Mueller, Sandro Manuel;
Gehrig, Saskia Maria;
Petersen, Jens A.;
Frese, Sebastian;
Mihaylova, Violeta;
Ligon-Auer, Maria;
Khmara, Natalia;
Nuoffer, Jean-Marc;
Schaller, André;
Lundby, Carsten;
Toigo, Marco;
Jung, Hans H.

Publication type:

journal article

Down-regulation of miR-9* in the peripheral leukocytes of Huntington's disease patients.

Published in:

2017

By:

Kuo-Hsuan Chang;
Yih-Ru Wu;
Chiung-Mei Chen;
Chang, Kuo-Hsuan;
Wu, Yih-Ru;
Chen, Chiung-Mei

Publication type:

journal article

KBG syndrome.

Published in:

2017

By:

Swols, Dayna Morel;
Foster II, Joseph;
Tekin, Mustafa;
Morel Swols, Dayna;
Foster, Joseph 2nd

Publication type:

journal article

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.

Published in:

2017

By:

Jianying Xi;
Chong Yan;
Wei-Wei Liu;
Kai Qiao;
Jie Lin;
Xia Tian;
Hui Wu;
Jiahong Lu;
Lee-Jun Wong;
Beeson, David;
Chongbo Zhao;
Xi, Jianying;
Yan, Chong;
Liu, Wei-Wei;
Qiao, Kai;
Lin, Jie;
Tian, Xia;
Wu, Hui;
Lu, Jiahong;
Wong, Lee-Jun

Publication type:

Case Study

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.

Published in:

2017

By:

Kanters, Tim A.;
van der Ploeg, Ans T.;
Kruijshaar, Michelle E.;
Rizopoulos, Dimitris;
Ken Redekop, W.;
Rutten-van Mölken, Maureen P. M. H.;
Hakkaart-van Roijen, Leona;
Redekop, W Ken;
Rutten-van Mӧlken, Maureen P M H

Publication type:

journal article

Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy.

Published in:

2017

By:

Brown, Robert E.;
Senniappan, Senthil;
Hussain, Khalid;
McGuire, Mary F.

Publication type:

Letter

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.

Published in:

2017

By:

Dworschak, Gabriel C.;
Zwink, Nadine;
Schmiedeke, Eberhard;
Mortazawi, Kiarasch;
Märzheuser, Stefanie;
Reinshagen, Konrad;
Leonhardt, Johannes;
Gómez, Barbara;
Volk, Patrick;
Rißmann, Anke;
Jenetzky, Ekkehart;
Reutter, Heiko

Publication type:

journal article

A novel mutation of HOXA11 in a patient with septate uterus.

Published in:

2017

By:

Ying Zhu;
Zhi Cheng;
Jing Wang;
Beihong Liu;
Longfei Cheng;
Beili Chen;
Yunxia Cao;
Binbin Wang;
Zhu, Ying;
Cheng, Zhi;
Wang, Jing;
Liu, Beihong;
Cheng, Longfei;
Chen, Beili;
Cao, Yunxia;
Wang, Binbin

Publication type:

journal article

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Published in:

2017

By:

Youssefian, Leila;
Touati, Andrew;
Saeidian, Amir Hossein;
Zargari, Omid;
Zeinali, Sirous;
Vahidnezhad, Hassan;
Uitto, Jouni

Publication type:

journal article

Fabry disease and incidence of cancer.

Published in:

2017

By:

Bird, Sarah;
Hadjimichael, Efthymios;
Mehta, Atul;
Ramaswami, Uma;
Hughes, Derralynn

Publication type:

journal article

Abstracts from the First European Meeting for ATTR Amyloidosis for Doctors and Patients.

Published in:: 2017
Publication type:: Abstract

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.

Published in:

2017

By:

Avagliano, Laura;
Grazioli, Paolo;
Mariani, Milena;
Bulfamante, Gaetano P.;
Selicorni, Angelo;
Massa, Valentina

Publication type:

journal article

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Published in:

2017

By:

Johnson, Katherine;
Töpf, Ana;
Bertoli, Marta;
Phillips, Lauren;
Claeys, Kristl G;
Stojanovic, Vidosava Rakocevic;
Perić, Stojan;
Hahn, Andreas;
Maddison, Paul;
Akay, Ela;
Bastian, Alexandra E;
Łusakowska, Anna;
Kostera-Pruszczyk, Anna;
Lek, Monkol;
Xu, Liwen;
MacArthur, Daniel G;
Straub, Volker

Publication type:

journal article

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Published in:

Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1

By:

Johnson, Katherine;
Töpf, Ana;
Bertoli, Marta;
Phillips, Lauren;
Claeys, Kristl G.;
Stojanovic, Vidosava Rakocevic;
Perić, Stojan;
Hahn, Andreas;
Maddison, Paul;
Akay, Ela;
Bastian, Alexandra E.;
Łusakowska, Anna;
Kostera-Pruszczyk, Anna;
Lek10,11, Monkol;
Xu, Liwen;
MacArthur, Daniel G.;
Straub, Volker

Publication type:

Article

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Published in:

2017

By:

Bettencourt, Conceição;
Salpietro, Vincenzo;
Efthymiou, Stephanie;
Chelban, Viorica;
Hughes, Deborah;
Pittman, Alan M.;
Federoff, Monica;
Bourinaris, Thomas;
Spilioti, Martha;
Deretzi, Georgia;
Kalantzakou, Triantafyllia;
Houlden, Henry;
Singleton, Andrew B.;
Xiromerisiou, Georgia

Publication type:

journal article

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Published in:

2017

By:

Serrano, Natalia Lourdes;
De Diego, Victor;
Cuadras, Daniel;
Monseny, Antonio F. Martinez;
Velázquez-Fragua, Ramón;
López, Laura;
Felipe, Ana;
Gutiérrez-Solana, Luis G.;
Macaya, Alfons;
Pérez-Dueñas, Belén;
Serrano, Mercedes;
Martinez Monseny, Antonio F;
CDG Spanish-Consortium

Publication type:

journal article

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Published in:

2017

By:

Ramakers, Rob;
Koene, Saskia;
Groothuis, Jan T;
de Laat, Paul;
Janssen, Mirian C H;
Smeitink, Jan

Publication type:

journal article

Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children.

Published in:

2017

By:

Hui Liu;
Jinrong Liu;
Huimin Li;
Yun Peng;
Shunying Zhao;
Liu, Hui;
Liu, Jinrong;
Li, Huimin;
Peng, Yun;
Zhao, Shunying

Publication type:

Case Study

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Published in:

2017

By:

Papa, Riccardo;
Doglio, Matteo;
Lachmann, Helen J.;
Ozen, Seza;
Frenkel, Joost;
Simon, Anna;
Neven, Bénédicte;
Kuemmerle-Deschner, Jasmin;
Ozgodan, Huri;
Caorsi, Roberta;
Federici, Silvia;
Finetti, Martina;
Trachana, Maria;
Brunner, Jurgen;
Bezrodnik, Liliana;
Pinedo Gago, Mari Carmen;
Maggio, Maria Cristina;
Tsitsami, Elena;
Suwairi, Wafaa Al;
Espada, Graciela

Publication type:

journal article

Mortality in patients with Sanfilippo syndrome.

Published in:

2017

By:

Lavery, Christine;
Hendriksz, Chris J.;
Jones, Simon A.

Publication type:

journal article

Cognitive impairment profile in adult patients with Niemann pick type C disease.

Published in:

2017

By:

Heitz, Camille;
Epelbaum, Stéphane;
Nadjar, Yann

Publication type:

journal article

Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

Published in:

2017

By:

Wheeler, Anne C.;
Sacco, Patricia;
Cabo, Raquel

Publication type:

journal article

The complete European guidelines on phenylketonuria: diagnosis and treatment.

Published in:

2017

By:

van Wegberg, A. M. J.;
MacDonald, A.;
Ahring, K.;
Bélanger-Quintana, A.;
Blau, N.;
Bosch, A. M.;
Burlina, A.;
Campistol, J.;
Feillet, F.;
Giżewska, M.;
Huijbregts, S. C.;
Kearney, S.;
Leuzzi, V.;
Maillot, F.;
Muntau, A. C.;
van Rijn, M.;
Trefz, F.;
Walter, J. H.;
van Spronsen, F. J.

Publication type:

journal article

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.

Published in:

2017

By:

Koene, Saskia;
Spaans, Edwin;
Van Bortel, Luc;
Van Lancker, Griet;
Delafontaine, Brant;
Badilini, Fabio;
Beyrath, Julien;
Smeitink, Jan

Publication type:

journal article

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).

Published in:

2017

By:

Muenzer, Joseph;
Giugliani, Roberto;
Scarpa, Maurizio;
Tylki-Szymańska, Anna;
Jego, Virginie;
Beck, Michael

Publication type:

journal article

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.

Published in:

2017

By:

Hainque, Elodie;
Caillet, Samantha;
Leroy, Sandrine;
Flamand-Roze, Constance;
Adanyeguh, Isaac;
Charbonnier-Beaupel, Fanny;
Retail, Maryvonne;
Le Toullec, Benjamin;
Atencio, Mariana;
Rivaud-Péchoux, Sophie;
Brochard, Vanessa;
Habarou, Florence;
Ottolenghi, Chris;
Cormier, Florence;
Méneret, Aurélie;
Ruiz, Marta;
Doulazmi, Mohamed;
Roubergue, Anne;
Corvol, Jean-Christophe;
Vidailhet, Marie

Publication type:

journal article

Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome.

Published in:

2017

By:

Chiriac, Anca;
Naznean, Adrian;
Podoleanu, Cristian;
Stolnicu, Simona

Publication type:

Letter

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

Published in:

2017

By:

Lad, Meher;
Parkinson, Michael H.;
Rai, Myriam;
Pandolfo, Massimo;
Bogdanova-Mihaylova, Petya;
Walsh, Richard A.;
Murphy, Sinéad;
Emmanuel, Anton;
Panicker, Jalesh;
Giunti, Paola

Publication type:

journal article

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.

Published in:

2017

By:

Nobuko Yamamoto;
Hideki Mutai;
Kazunori Namba;
Noriko Morita;
Shin Masuda;
Yasuyuki Nishi;
Atsuko Nakano;
Sawako Masuda;
Masato Fujioka;
Kimitaka Kaga;
Kaoru Ogawa;
Tatsuo Matsunaga;
Yamamoto, Nobuko;
Mutai, Hideki;
Namba, Kazunori;
Morita, Noriko;
Masuda, Shin;
Nishi, Yasuyuki;
Nakano, Atsuko;
Masuda, Sawako

Publication type:

journal article

The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study.

Published in:

2017

By:

Neelamekam, Sasi;
Kwok, See;
Malone, Rachel;
Wierzbicki, Anthony S.;
Soran, Handrean

Publication type:

journal article

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.

Published in:

2017

By:

Geppert, Julia;
Stinton, Chris;
Freeman, Karoline;
Fraser, Hannah;
Clarke, Aileen;
Johnson, Samantha;
Sutcliffe, Paul;
Taylor-Phillips, Sian

Publication type:

journal article

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Published in:

2017

By:

Ritelli, Marco;
Dordoni, Chiara;
Cinquina, Valeria;
Venturini, Marina;
Calzavara-Pinton, Piergiacomo;
Colombi, Marina

Publication type:

Case Study

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Published in:

2017

By:

Harris, Elizabeth;
Topf, Ana;
Barresi, Rita;
Hudson, Judith;
Powell, Helen;
Tellez, James;
Hicks, Debbie;
Porter, Anna;
Bertoli, Marta;
Evangelista, Teresinha;
Marini-Betollo, Chiara;
Magnússon, Ólafur;
Lek, Monkol;
MacArthur, Daniel;
Bushby, Kate;
Lochmüller, Hanns;
Straub, Volker;
Magnússon, Ólafur;
Lochmüller, Hanns

Publication type:

journal article

Prevalence of Amyloidosis in Korea.

Published in:

2017

By:

Seo, Su;
Jang, Shin;
Lee, Ga;
Choi, Bareun;
Chun, Heeran;
Cho, Eun;
Cho, Sung-il;
Seo, Su Ra;
Jang, Shin Yi;
Lee, Ga Yeon;
Cho, Eun Jeong

Publication type:

journal article

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Published in:

2017

By:

Mariko Okubo;
Kanako Goto;
Hirofumi Komaki;
Harumasa Nakamura;
Madoka Mori-Yoshimura;
Yukiko K. Hayashi;
Satomi Mitsuhashi;
Satoru Noguchi;
En Kimura;
Ichizo Nishino;
Okubo, Mariko;
Goto, Kanako;
Komaki, Hirofumi;
Nakamura, Harumasa;
Mori-Yoshimura, Madoka;
Hayashi, Yukiko K;
Mitsuhashi, Satomi;
Noguchi, Satoru;
Kimura, En;
Nishino, Ichizo

Publication type:

journal article

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Published in:

2017

By:

Devigili, Grazia;
De Filippo, Michele;
Ciana, Giovanni;
Dardis, Andrea;
Lettieri, Christian;
Rinaldo, Sara;
Macor, Daniela;
Moro, Alessandro;
Eleopra, Roberto;
Bembi, Bruno

Publication type:

journal article

Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.

Published in:

2017

By:

Aram Yang;
Jinsup Kim;
Sung Yoon Cho;
Dong-Kyu Jin;
Yang, Aram;
Kim, Jinsup;
Cho, Sung Yoon;
Jin, Dong-Kyu

Publication type:

journal article

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Published in:

2017

By:

Janin, Alexandre;
Bauer, Delphine;
Ratti, Francesca;
Millat, Gilles;
Méjat, Alexandre

Publication type:

journal article

Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.

Published in:

2017

By:

Peter, Franziska;
Rost, Sebastian;
Rolfs, Arndt;
Frech, Moritz J.

Publication type:

journal article

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Published in:

2017

By:

Byrne, Barry J.;
Geberhiwot, Tarekegn;
Barshop, Bruce A.;
Barohn, Richard;
Hughes, Derralynn;
Bratkovic, Drago;
Desnuelle, Claude;
Laforet, Pascal;
Mengel, Eugen;
Roberts, Mark;
Haroldsen, Peter;
Reilley, Kristin;
Jayaram, Kala;
Ke Yang;
Walsh, Liron;
Yang, Ke;
POM-001/002 Investigators

Publication type:

journal article

Points to consider: efficacy and safety evaluations in the clinical development of ultra-orphan drugs.

Published in:

2017

By:

Kojiro Maeda;
Masayuki Kaneko;
Mamoru Narukawa;
Teruyo Arato;
Maeda, Kojiro;
Kaneko, Masayuki;
Narukawa, Mamoru;
Arato, Teruyo

Publication type:

journal article

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Published in:

2017

By:

De Wachter, E.;
Thomas, M.;
Wanyama, S. S.;
Seneca, S.;
Malfroot, A.

Publication type:

journal article

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.

Published in:

2017

By:

López-Bastida, Julio;
Peña-Longobardo, Luz;
Aranda-Reneo, Isaac;
Tizzano, Eduardo;
Sefton, Mark;
Oliva-Moreno, Juan;
López-Bastida, Julio;
Peña-Longobardo, Luz María

Publication type:

journal article