Results 61 to 70 of about 7,267 (177)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology
Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with ...
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
doaj   +1 more source

Clinical and Genetic Diagnosis of Friedreich’s Ataxia

Pediatric Neurology Briefs, 1998
The clinical diagnostic criteria and genetic testing for Friedreich’s ataxia are reviewed from the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
J Gordon Millichap
doaj   +1 more source

In vivo imaging of pyrrole-imidazole polyamides with positron emission tomography [PDF]

, 2008
The biodistribution profiles in mice of two pyrrole-imidazole polyamides were determined by PET. Pyrrole-imidazole polyamides are a class of small molecules that can be programmed to bind a broad repertoire of DNA sequences, disrupt transcription factor ...
Bergstr  m, Burns, Chou, D. A. Harki, D. B. Stout, Dervan, Dervan, Dudouet, Edelson, Gross, Harapanhalli, Hsu, K  hnast, Lee, Lendvai, M. E. Phelps, N. Satyamurthy, P. B. Dervan, Phelps, Phelps, Poethko, Puckett, Roivainen, Schottelius, Tavitian, Toyokuni, Trauger   +26 more
core   +3 more sources

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

The N-terminus of mature human frataxin is intrinsically unfolded [PDF]

, 2009
Frataxin is a highly conserved nuclear-encoded mitochondrial protein whose deficiency is the primary cause of Friedreich's ataxia, an autosomal recessive neurodegenerative disease.
Adamec, Adinolfi, Adinolfi, Altschul, Babcock, Berjanskii, Bou-Abdallah, Campuzano, Campuzano, Cavadini, Cavadini, Cho, Condo, Delaglio, Dhe-Paganon, Fink, Foury, He, Karlberg, Koutnikova, Larkin, Li, Linding, Musco, Musco, Nair, O’Neill, Pandolfo, Rötig, Schagerlof, Schmucker, Wishart, Yoon, Yoon   +33 more
core   +1 more source

Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Nomlabofusp is a recombinant, cell‐penetrating human frataxin (hFXN) fusion protein in development for the treatment of Friedreich's ataxia (FRDA). This study evaluated whether nomlabofusp‐derived hFXN concentrations covary across accessible peripheral matrices and FRDA‐relevant tissues, supporting the feasibility of surrogate tissue sampling ...
Flavia De Toni, Mohamed Hamdani, Chintan Patadia, Gopi Shankar   +3 more
wiley   +1 more source

Expression and processing of mature human frataxin after gene therapy in mice

Scientific Reports
Friedreich’s ataxia is a degenerative and progressive multisystem disorder caused by mutations in the highly conserved frataxin (FXN) gene that results in FXN protein deficiency and mitochondrial dysfunction.
Teerapat Rojsajjakul, Nithya Selvan, Bishnu De, Jonathan B. Rosenberg, Stephen M. Kaminsky, Dolan Sondhi, Peter Janki, Ronald G. Crystal, Clementina Mesaros, Richie Khanna, Ian A. Blair   +10 more
doaj   +1 more source

Friedreich's ataxia: the vicious circle hypothesis revisited

BMC Medicine, 2011
Friedreich's ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which ...
Camadro Jean-Michel, Santos Renata, Bayot Aurélien, Rustin Pierre   +3 more
doaj   +1 more source

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia [PDF]

, 2016
Frataxin (FXN) deficiency causes Friedreich's ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms. FRDA pathophysiology combines developmental and degenerative processes of dorsal root ganglia (DRG), sensory nerves ...
Bolinches-Amorós, Arantxa, González-Cabo, Pilar, Mollá, Belén, Muñoz-Lasso, D.C., Palau Martínez, Francesc, Riveiro, F.   +5 more
core   +2 more sources