Results 91 to 100 of about 16,386 (154)

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L‐Amino Acid Decarboxylase Deficiency Using an MR‐Compatible Cannula: 48 Weeks of Follow‐Up

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production.
Daniel J. Curry, Phillip L. Pearl, Scellig S. D. Stone, Donald L. Gilbert, Sudhakar Vadivelu, Bruria Ben‐Zeev, Matthew Vestal, Muhammad Zafar, Chun‐Hwei Tai, Sheng‐Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin‐Hsiu Chien, Paul Wuh‐Liang Hwu   +22 more
wiley   +1 more source

LKB1–AMPK Signaling Pathway in Cardiovascular and Other Diseases

MedComm, Volume 7, Issue 3, March 2026.
The LKB1–AMPK pathway has a central regulatory role in various diseases. Dysfunction of this pathway can lead to pathological processes in cardiovascular diseases (atrial fibrillation, myocardial infarction, myocardial hypertrophy, atherosclerosis), metabolic diseases (diabetes and kidney disease), neurodegenerative diseases (Alzheimer's disease ...
Zhuo Chen, Qin Yang, Guo‐Wei He
wiley   +1 more source

Precision Oncology for Pediatric Solid Tumors Using In‐Hospital Pediatric/AYA Malignancy‐Specific Panel Sequencing

Cancer Science, Volume 117, Issue 3, Page 797-806, March 2026.
Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima, Sho Kurihara, Isamu Saeki, Ryo Touge, Keigo Nakashima, Shuhei Karakawa, Fumiyuki Yamasaki, Satoshi Okada, Eiso Hiyama   +8 more
wiley   +1 more source

Finding genes related to homologous recombination as modifiers of the number of dermal neurofibromas in neurofibromatosis type 1 patients / Estudi sobre la implicació dels gens de recombinació homòloga com a modificadors del nombre de neurofibromes dèrmics en pacients amb Neurofibromatosi tipus 1

, 2012
[cat] Els pacients amb Neurofibromatosi tipus 1 presenten una gran variabilitat en les seves manifestacions clíniques. El tret més característic és l’aparició de neurofibromes dèrmics, els quals poden aparèixer a decenes o milers en un pacient. L’objectiu principal de la present tesi ha estat identificar aquells gens i variants al•lèliques responsables
openaire   +2 more sources

Neurofibromatosis type 1: Splicing mutation detected by MLPA and DNA sequencing in Argentina [PDF]

, 2015
La neurofibromatosis tipo 1 (NF1) es un desorden genético autosómico dominante, con una prevalenciade 1 en 2500-3000 nacidos vivos. La dificultad diagnóstica se debe al tamaño extenso delgen NF1 con pocos sitios hot-spot, la ausencia de una clara ...
Dipierri, Jose Edgardo, Laurito, Sergio Roberto, Roqué, María   +2 more
core  

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth [PDF]

, 2017
Anastasaki, Corina, Dahiya, Sonika, Gutmann, David H   +2 more
core   +3 more sources

Personalized medicine strategy for MPNSTs: using precision oncology on PDOX models to inform tumor boards. [PDF]

J Transl Med
Ortega-Bertran S, Fernández-Rodríguez J, Magallón-Lorenz M, Creus-Bachiller E, Uriarte-Arrazola I, Mazuelas H, Garraus M, Carrió M, Gel B, Rovira C, Alvarez M, Villanueva A, Castaneda A, Salvador H, Serra E, Lázaro C.   +15 more
europepmc   +1 more source

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal. [PDF]

Clinics (Sao Paulo)
de Francisco DD, Silva IMW, Saraiva JM, Steiner CE, Gil-da-Silva-Lopes VL.   +4 more
europepmc   +1 more source

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source

Encephalocraniocutaneous lipomatosis: a rare and sporadic phakomatosis. [PDF]

An Bras Dermatol
Palhano ACM, Neumayer JMO, Ferradoza MTN, Samorano LP, Rivitti-Machado MC, de Oliveira ZNP.   +5 more
europepmc   +1 more source