Prevalence of neurofibromatosis 1 in German children at elementary school enrollment

M Lammert, JM Friedman, L Kluwe… - Archives of …, 2005 - jamanetwork.com
Objective To determine the prevalence of neurofibromatosis 1 (NF1) among 6-year-old
children in Germany. Setting and Patients A total of 152819 children aged 6 years in 6 …

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

JM Morante-Redolat, A Gorostidi-Pagola… - Human molecular …, 2002 - academic.oup.com
Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy
characterized by partial seizures, usually preceded by auditory signs. The gene for this …

Treatment of ADHD in neurofibromatosis type 1

VF Mautner, L Kluwe, SD Thakker… - … medicine and child …, 2002 - cambridge.org
Forty-six of 93 children with neurofibromatosis type 1 (NF1) were found to satisfy the
diagnostic criteria for attention-deficit–hyperactivity disorder (ADHD). Detailed comparisons …

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1

VF Mautner, FA Asuagbor, E Dombi… - Neuro …, 2008 - academic.oup.com
Abstract People with neurofibromatosis 1 (NF1) have multiple benign neurofibromas and a
10% lifetime risk of developing malignant peripheral nerve sheath tumors (MPNSTs). Most …

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

L Kluwe, R Siebert, S Gesk, RE Friedrich… - Human …, 2004 - Wiley Online Library
A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for
deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations …

Management of neurofibromatosis type 1-associated plexiform neurofibromas

MJ Fisher, JO Blakeley, BD Weiss, E Dombi… - Neuro …, 2022 - academic.oup.com
Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder
neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause significant …

[HTML][HTML] Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis

SR Plotkin, MA Bredella, W Cai, A Kassarjian… - PloS one, 2012 - journals.plos.org
Purpose Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for
multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance …

Loss of NF1 allele in schwann cells but not in fibroblasts derived from an NF1‐associated neurofibroma

L Kluwe, R Friedrich, VF Mautner - Genes, Chromosomes and …, 1999 - Wiley Online Library
Neurofibromas, the hallmark of neurofibromatosis 1, are composed mainly of Schwann cells
and fibroblasts. Inactivation of both NF1 alleles is the cause of these benign tumors, but it is …

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

R Michelucci, JJ Poza, V Sofia, MR Feo, S Binelli… - …, 2003 - Wiley Online Library
Purpose: To describe the clinical and genetic findings of seven additional pedigrees with
autosomal dominant lateral temporal epilepsy (ADLTE). Methods: A personal and family …

Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

B Bausch, W Borozdin, VF Mautner… - The Journal of …, 2007 - academic.oup.com
Abstract Background: Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated
syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained …