Discrimination of benign, atypical, and malignant peripheral nerve sheath tumours in neurofibromatosis type 1 – intraindividual comparison of positron emission computed tomography and diffusion-weighted magnetic resonance imaging

Authors: Inka Ristow, Ivayla Apostolova, Michael G. Kaul, Maria Stark, Antonia Zapf, Marie-Lena Schmalhofer, Victor F. Mautner, Said Farschtschi, Gerhard Adam, Peter Bannas, Johannes Salamon, Lennart Well

Source: EJNMMI Research, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: ADC, Atypical neurofibroma, DWI, MPNST, MRI, NF1, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: https://doaj.org/toc/2191-219X

Access URL: https://doaj.org/article/ae4fe661d5e941bba4cd1b3cc16e1e8e

Analysis of mutations of NF1 gene in three patients with neurofibromatosis type I

Authors: LIN Yanyan, DONG Shuyan, WANG Huaiyu, LIN Lihang, XIAO Xuemin

Source: Pifu-xingbing zhenliaoxue zazhi, Vol 31, Iss 12, Pp 818-824 (2024)

Subject Terms: neurofibromatosis type i, dna mutational analysis, nf1 gene, Dermatology, RL1-803

File Description: electronic resource

Relation: http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2024.12.003; https://doaj.org/toc/1674-8468

Access URL: https://doaj.org/article/cfcb10bd6d63401297f2c30e7fa4fca9

Atypical cellular neurothekeoma: a case report with a novel NF1 mutation

Authors: Valli de la Guardia, Edgardo Castro-Pérez, Ana I. Porcell, Sara González de Tena-Dávila, Marina Pacheco

Source: Diagnostic Pathology, Vol 19, Iss 1, Pp 1-9 (2024)

Subject Terms: Atypical cellular neurothekeoma, Whole exome sequencing, NF1, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/1746-1596

Access URL: https://doaj.org/article/acd3fdd53a0c4437845cb632e0599b9c

Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors

Authors: Marie-Lena Schmalhofer, Said Farschtschi, Lan Kluwe, Victor Felix Mautner, Gerhard Adam, Lennart Well, Inka Ristow

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)

Subject Terms: Peripheral nerve sheath tumor, NF1 in children, Plexiform neurofibromas, Magnetic resonance imaging, MRI-based long-term evaluation, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/8d7edd8b3f144e49abd5b06f094fd6de

Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia

Authors: Şule Altıner, Alper Han Çebi

Source: Gazi Medical Journal, Vol 35, Iss 4, Pp 422-432 (2024)

Subject Terms: neurofibromatosis type 1, nf1, cerebrovascular stenosis, leukemia, jmml, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2147-2092

Access URL: https://doaj.org/article/67ba1f03e67545e7b9d7faf78d086a9b

Developmental trajectories in infants and pre-school children with Neurofibromatosis 1

Authors: Hannah Slevin, Fiona Kehinde, Jannath Begum-Ali, Ceri Ellis, Emma Burkitt-Wright, Jonathan Green, Mark H. Johnson, Greg Pasco, Tony Charman, Emily J. H. Jones, Shruti Garg, the EDEN-STAARS team

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-16 (2024)

Subject Terms: Neurofibromatosis, NF1, Trajectories, Cohort, Autism, ADHD, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/02b46482a5ce41c0b23ebd5c154935d7

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes

Authors: Michael Chang, Mohamed Sherief, Maria Ioannou, Viveka Chinnasamy, Lucy Chen, Michael Frost, Michelle Mattson-Hoss, Herb Sarnoff, David O. Kamson, Matthias Holdhoff, Debraj Mukherjee, Chetan Bettegowda, Jordina Rincon-Torroella, Victoria Croog, Peng Huang, Fausto J. Rodriguez, Calixto-Hope G. Lucas, Karisa C. Schreck

Source: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-10 (2024)

Subject Terms: Neurofibromin, NF1, Biomarker, Glioblastoma, High-grade glioma, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/750d716ba61347bc87ffa9e517a87e9c

Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report

Authors: Mercedes Aguilar-Soto, Julia M. Zuarth-Vázquez, Laura Leyva-Figueroa, Karla Zarco-Ávila, Armando Gamboa-Domínguez, Aldo Eguiluz-Melendez, Laura C. Hernández-Ramírez

Source: Frontiers in Endocrinology, Vol 16 (2025)

Subject Terms: endocrine neoplasia, genetic diagnosis, neurofibromatosis type 1, NF1, pituitary neuroendocrine tumors, tumor suppressor, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2025.1483305/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/0c6aec4871974feba9c93a38e925d096

Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Authors: Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares

Source: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)

Subject Terms: NF1, 16p13.11, Alu insertion, Coexisting disorders, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/cfb400650cd94a818d9ff88d77034158

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1

Authors: Valentina Botero, Seth M. Tomchik

Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)

Subject Terms: Neurofibromatosis type 1, Neurofibromin, NF1, Metabolism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/eab0c970f37d4a3996d3c77566b3abd4

Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis

Authors: Ryota TAMURA, Masahiro YO, Masahiro TODA

Source: Neurologia Medico-Chirurgica, Vol 64, Iss 8, Pp 299-308 (2024)

Subject Terms: nf1, nf2, schwannoma, schwannomatosis, diagnostic criteria, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.jstage.jst.go.jp/article/nmc/64/8/64_2024-0067/_pdf/-char/en; https://doaj.org/toc/1349-8029

Access URL: https://doaj.org/article/5097e61d6ca34404ae295417afc1ed15

Treating Severe Cervical Deformity in Neurofibromatosis 1 with a Posterior Fibula Graft from Occiput to Thoracic Spine: A Case Report

Authors: Bungo Otsuki, Shunsuke Fujibayashi, Takashi Noguchi, Takayoshi Shimizu, Shuichi Matsuda

Source: Spine Surgery and Related Research, Vol 8, Iss 4, Pp 469-472 (2024)

Subject Terms: neurofibromatosis 1, nf1, dystrophic type, cervical deformity, cervical kyphosis, fibula graft, instrumentation, Surgery, RD1-811

File Description: electronic resource

Relation: https://www.jstage.jst.go.jp/article/ssrr/8/4/8_2023-0316/_pdf/-char/en; https://doaj.org/toc/2432-261X

Access URL: https://doaj.org/article/9cb963feefbb47f983cbc65fce8c6da0

School Bullying during Childhood and Adolescence

Contributors: Waseem, Muhammad

Subject Terms: neurofibromatosis type 1 (NF1), children, adolescents, bullying, victimization, psychological symptoms, positive emotions, internal controllable attributions, academic performance, exams, primary school, secondary school, educational context, bystander, defending behavior, depressive symptoms, social anxiety, elementary school, middle school, ethnic bullying, intercultural contact, program, intervention, school, diversity, Spain, Italy, primary education, secondary education, gender, age, categories, victims, well-being, students, adolescence, HRQoL, bullying perpetration, disadvantage, mental health, emotional symptoms, externalizing problems, physical activity, cognitive emotion regulation, psychopathology, school bullying, peer cooperation, school belonging, teacher support, parents’ support, Psychology

File Description: application/octet-stream

Access URL: https://directory.doabooks.org/handle/20.500.12854/152743
https://mdpi.com/books/pdfview/book/9884

Identifying Novel Genetic Markers in Pediatric Rhabdomyosarcoma

Authors: Xu, Joyce ^a, Wang, Theodore ^a, Burjonrappa, Sathyaprasad ^{b, ⁎}

Source: In Journal of Pediatric Surgery January 2025 60(1)

Cognition and behavior in adults with neurofibromatosis type 1

Authors: Anja Bos-Roubos, Hanneke van Leeuwen, Ellen Wingbermühle, Louisa van den Bosch, Lindsey Ossewaarde, Walter Taal, Laura de Graaff, Jos Egger

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: neurofibromatosis type 1, NF1, congenital disorder, cognition, behavior, psychopathology, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1476472/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/500d779953e0404bbd2111257ac538e3

Two-year Local and Distant Control of Malignant Peripheral Nerve Sheath Tumor (MPNST) in NF1 Patients After Multiple Recurrences: A Case Report

Authors: Mostafa Farzin, Fatemeh Jafari, Ava Yousefi

Source: Case Reports in Clinical Practice, Vol 9, Iss 2 (2024)

Subject Terms: MPNST, NF1, RT, Chemotherapy, Local control, Distant control, Medicine

File Description: electronic resource

Relation: https://crcp.tums.ac.ir/index.php/crcp/article/view/978; https://doaj.org/toc/2538-2683; https://doaj.org/toc/2538-2691

Access URL: https://doaj.org/article/0fddc529f09242e18dd7b5a0cd0b9920

Quality of life of patients with neurofibromatosis 1—Physical disability does not necessarily result in poor mental health

Authors: Ute Bäzner, Leonie Stauss, Thomas Kapapa, Christian Rainer Wirtz, Andrej Pala

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: NF1, quality of life, SF-36, severity, visibility, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1432196/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/7706db31554b4cb1a0b3de6b1a3d51e7

Parent-infant interaction in the context of emerging neurodiversities: Neurofibromatosis 1 and elevated likelihood of ADHD

Authors: Kaplan, Gamze ^a, Garg, Shruti ^{a, b}, Smith, Debbie M. ^a, Begum-Ali, Jannath ^b, Jones, Emily J.H. ^b, Green, Jonathan ^{a, b}, Charman, Tony ^d, Johnson, Mark H. ^{c, e}, Wan, Ming Wai ^{a, ⁎}

Source: In Infant Behavior and Development June 2025 79

Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: New patient‐derived orthotopic xenografts, cell lines and tumor entities

Authors: Edgar Creus‐Bachiller, Juana Fernández‐Rodríguez, Miriam Magallón‐Lorenz, Sara Ortega‐Bertran, Susana Navas‐Rutete, Cleofe Romagosa, Tulio M. Silva, Maria Pané, Anna Estival, Diana Perez Sidelnikova, Mireia Morell, Helena Mazuelas, Meritxell Carrió, Tereza Lausová, David Reuss, Bernat Gel, Alberto Villanueva, Eduard Serra, Conxi Lázaro

Source: Molecular Oncology, Vol 18, Iss 4, Pp 895-917 (2024)

Subject Terms: cellular models, MPNST, NF1, PDOX, treatment response, tumor entities, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1574-7891; https://doaj.org/toc/1878-0261

Access URL: https://doaj.org/article/7781165f8bd2471e855029a3e508c066

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Authors: Lalvani S, Brown RM

Source: Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 1803-1817 (2024)

Subject Terms: multisystemic, multidisciplinary team, quality of life, neurofibromatosis, nf expert, nf1, tumor predisposition syndrome, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH; https://doaj.org/toc/1178-2390

Access URL: https://doaj.org/article/073f1f9af19443639be63f72fae4cbe5