Works matching IS 26330040 AND DT 2024 AND VI 5

Results: 43

WITHDRAWAL – An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent.

Published in:: Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241309151
Publication type:: Article

Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241307962

By:

Knoble, Naomi;
Murray, Lindsey T.

Publication type:

Article

Hutchinson–Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241305144

By:

Arun, Akhil;
Nath, Athira Rejith;
Thankachan, Bonny;
Unnikrishnan, M. K.

Publication type:

Article

Count Me In: patient-partnered research to address disparities for rare cancer patients.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241304440

By:

Bhakhri, Priyanka;
Phelps, Kolbe;
Gómez Tejeda Zañudo, Jorge;
Gwozdz, Erin;
Ko, Sophia;
Hendrickson, Taisha;
Anastasio, Elana;
Diehl, Diane M.;
Painter, Corrie A.;
McGillicuddy, Mary

Publication type:

Article

Gastrointestinal langerhans cell histiocytosis in an adult presenting with anal protrusion and multiple colorectal ulcers: a case report.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241301799

By:

Tran, Nhu Tung;
Truong, Quoc Thanh;
Nguyen, Khuyen Thi;
Lai, The Anh Khoa;
Trinh, Cong Thao;
Hoang, Van Trung

Publication type:

Article

A patient organization perspective: charting the course to a cure for SCN2A-related disorders.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241292645

By:

Schust, Leah F.;
Burke, Jennifer;
SanInocencio, Christina;
Bryan, Brad A.;
Ho, Karen S.;
Egan, Shawn M.

Publication type:

Article

Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241292378

By:

Ikrama, Muhammad;
Usama, Muhammad;
Haider, Muhammad Hassan;
Israr, Shifa;
Humayon, Maryam

Publication type:

Article

WITHDRAWN — Administrative Duplicate Publication: An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241290907

By:

Engel, Sarah Grace;
Said Al-Beshri, Ali;
Ananth, Amitha;
Rashid, Salman

Publication type:

Article

Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241290834

By:

Frijns, Johan H. M.;
Geerders, M. G. S.;
Scholing, Esther;
Verbist, Berit M.;
Koot, Radboud W.;
Malessy, Martijn J. A.;
Boermans, Peter-Paul B. M.;
Briaire, Jeroen J.

Publication type:

Article

27th Annual Conference of the United Mitochondrial Disease Foundation Abstracts - Mitochondrial Medicine 2024 - Cleveland, Ohio – June 26-29, 2024.

Published in:: Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241276322
Publication type:: Article

A roadmap to cure CHD2-related disorders.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241283749

By:

Prince, Stephanie;
Bonkowski, Emily;
McGraw, Christopher;
SanInocencio, Christina;
Mefford, Heather C;
Carvill, Gemma;
Broadbent, Brian

Publication type:

Article

SLC6A1 patient & organization perspective: founding of SLC6A1 connect, research, and ongoing efforts.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241283734

By:

Tiller, Jacob;
DeLeeuw, Melissa B.;
Kang, Jing-Qiong;
Freed, Amber

Publication type:

Article

WITHDRAWAL: Proceedings from the MENA Congress for Rare Diseases, 16-19 May 2024, Abu Dhabi, UAE.

Published in:: Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241280488
Publication type:: Article

Erratum to "Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials".

Published in:: 2024
Publication type:: Correction Notice

The MED13L Foundation strategic research plan: a roadmap to the future.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241290252

By:

Heilmann, Rachel;
Pfalzer, Anna;
Bichell, Terry Jo;
Terala, Ananya;
Campbell, Alicia;
Taatjes, Dylan;
Ghoumid, Jamal;
Grueter, Chad;
Bain, Jennifer;
Strich, Randy;
Dias, Vanessa;
Sokorai, Kimberly;
Seaver, Nicholas;
Sexton, Kelly;
Boychuck, Kathleen

Publication type:

Article

The small steps that lead to big impact: translating therapeutics from idea to reality for the CDKL5 deficiency disorder community.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241275673

By:

Jaksha, Amanda;
Bishop, Marissa;
Utley, Karen;
Grabenstatter, Heidi L.

Publication type:

Article

Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case report.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241275672

By:

Brennan, Christine;
Matthews, Abigail;
Tennant, Sherri

Publication type:

Article

Koolen-de Vries Syndrome: a journey from diagnosis to treatments.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241265414

By:

Pfalzer, Anna C.;
Ivers, Blake;
Haynam, Alayna;
Drake, Barbara;
Koolen, David A.;
Kasri, Nael Nadif;
de Vries, Bert B. A.;
Mefford, Heather C.;
Morgan, Angela;
Bichell, Terry Jo;
Simon, Elijah;
Terala, Ananya;
Myers, Kenneth A.;
Point, Ashley

Publication type:

Article

The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241263972

By:

Brown, Tanya L.;
Bainbridge, Matthew N.;
Zahn, Grit;
Nye, Kim L.;
Porter, Brenda E.

Publication type:

Article

Addendum To: Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241270369

By:

Feleus, Stephanie;
van der Lee, Maaike;
Swen, Jesse J.;
Roos, Raymund A. C.;
de Bot, Susanne T.

Publication type:

Article

The use of art as a creative research method to understand psychosocial care needs for children with rare diseases.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241265449

By:

Buckle, Niamh;
O'Neill, Amy;
Sweeney, Alison;
McNulty, Sandra;
Bracken, Shirley;
Awan, Atif;
Sinnott, Shannon;
Gibbs, Lisa;
Larkin, Philip;
Kroll, Thilo;
Somanadhan, Suja

Publication type:

Article

The road toward patient-led research in the GLUT1 Deficiency community: a patient organization perspective.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241265421

By:

Ojeda Torres, Sandra Stella;
Sanchez, Chantal Marie;
Steele, Glenna Spencer

Publication type:

Article

Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241273465

By:

Aartsma-Rus, Annemieke;
Collin, Rob W.J.;
Elgersma, Ype;
Lauffer, Marlen C.;
van Roon-Mom, Willeke

Publication type:

Article

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241273464

By:

Savage, Margaret C.;
Bliss, Geraldine;
Buxbaum, Joseph D.;
Farrell, Jordan S.;
Levin, April R.;
Srivastava, Siddharth;
Berry-Kravis, Elizabeth;
Holder Jr, J. Lloyd;
Sahin, Mustafa

Publication type:

Article

TANGO2 Research Foundation Poster Abstracts 2024 - TANGO2 Family Conference - Disney's Coronado Springs Resort - June 23 - 25, 2024.

Published in:: Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241264127
Publication type:: Article

Corrigendum to "Proceedings from the MENA Congress for Rare Diseases, 16-19 May 2024, Abu Dhabi, UAE".

Published in:: 2024
Publication type:: Correction Notice

Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241252448

By:

Baker, Eileen Sullivan;
Botham, Jennifer;
Rechisky, Tasia;
Romano, Evelyn;
Garcia, Daniel;
Berry, Susan A.

Publication type:

Article

Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241252447

By:

Contesse, Marielle G.;
Woods, Rebecca J.;
Leffler, Mindy;
Prades, Silvia;
Greenfield, Julie;
Compton, Andrea;
Carroll, Jeffrey B.

Publication type:

Article

The role of the TSC Alliance in advancing therapy development: a patient organization perspective.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241265411

By:

Roberds, Steven L.;
Fuchs, Zoë;
Cassidy, Elizabeth M.;
Metzger, Samantha;
Abi, Ayat;
Pounders, Ashley J.;
Aguiar, Dean J.

Publication type:

Article

Corrigendum to "The Rare Diseases Clinical Research Network: a model for clinical trial readiness".

Published in:: 2024
Publication type:: Correction Notice

Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241254123

By:

Grens, Kerry;
Church, Kit M.;
Diehl, Eric;
Hunter, Senyene E.;
Tatton-Brown, Katrina;
Kiernan, Jill;
Delagrammatikas, Christal G.

Publication type:

Article

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241254122

By:

Potter, Sarah Nelson;
Reynolds, Elizabeth;
Okoniewski, Katherine C.;
Edwards, Anne;
Gable, Julia;
Hill, Christine;
Bakalov, Vesselina;
Zentz, Stephanie;
Whiting, Carolyne;
Cheves, Emily;
Garbarini, Katie;
Jalazo, Elizabeth;
Howell, Carrie;
Moore, Amanda;
Wheeler, Anne

Publication type:

Article

Health services interventions to improve the quality of care in rare disease: a scoping review.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241262810

By:

Chou, Cody;
Wiredu, Sydney O.;
Von Imhof, Liesel;
Tan, Anran;
Agarwal, Sasha;
Lydston, Melis;
Merker, Vanessa L.

Publication type:

Article

STXBP1: fast-forward to a brighter future – a patient organization perspective.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241257221

By:

Goss, James R.;
Prosser, Benjamin;
Helbig, Ingo;
Son Rigby, Charlene

Publication type:

Article

Five cases of pulmonary Aspergillus nodules diagnosed at surgery and by pathology in immunocompetent patients, with a literature review.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241252446

By:

Dong, Shuangxia;
Wang, Fengxiang;
Jin, Haizhen;
Dai, Xinjian

Publication type:

Article

Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241249763

By:

Rushing, Gabrielle V.;
Sills, Jennifer

Publication type:

Article

An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241234932

By:

Rogers-Hammond, Ryan;
Howell, Carrie

Publication type:

Article

Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241249189

By:

Prades, Silvia;
Compton, Andrea;
Carroll, Jeffrey B.

Publication type:

Article

Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241245721

By:

Müller, Annelieke R.;
van Silfhout, Nadia Y.;
den Hollander, Bibiche;
Kampman, Dick H. C.;
Bakkum, Lianne;
Brands, Marion M. M. G.;
Haverman, Lotte;
Terwee, Caroline B.;
Schuengel, Carlo;
Daams, Joost;
Hessl, David;
Wijburg, Frits A.;
Boot, Erik;
van Eeghen, Agnies M.

Publication type:

Article

Developing a pathway to clinical trials for CACNA1A -related epilepsies: A patient organization perspective.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241245725

By:

Fox, Pangkong M.;
Malepati, Sunitha;
Manaster, Lisa;
Rossignol, Elsa;
Noebels, Jeffrey L.

Publication type:

Article

WITHDRAWN: Proceedings from the MENA Congress for Rare Diseases, 16-19 May 2024, Abu Dhabi, UAE.

Published in:: 2024
Publication type:: Abstract

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241249762

By:

Hecker, JayEtta;
Conecker, Gabrielle;
Chapman, Chere;
Hommer, Rebecca;
Ludwig, Natasha N.;
Sevinc, Gunes;
Te, Sara;
Wojnaroski, Mary;
Downs, Jenny;
Berg, Anne T.

Publication type:

Article

A United States-based patient-reported adult polyglucosan body disease registry: initial results.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241227452

By:

Sparks, Jacy;
Michelassi, Francesco;
Thompson, John L. P.;
Buchsbaum, Richard;
Pires, Natacha;
DeRosa, Janet T.;
Engelstad, Kristin;
DiMauro, Salvatore;
Akman, Hasan Orhan;
Hirano, Michio

Publication type:

Article