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The effect of lamotrigine on cortical inhibition and plasticity in Neurofibroma…

Ottenhoff(MJ),Heuvelmans(A),Castricum(J),Tul… Clin Neurophysiol 2025-05-00

...NF1) is a genetic disorder associated with cognitive and behavioral deficits. In NF1, decreased neurofibromin levels att...

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion o…

Koczkowska(M),Callens(T),Gomes(A),Sharp(A),C… Genet Med 2019-00-00

...NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutane...

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibrom…

Assunto(A),Ferrara(U),De Luca(A),Pivonello(C… Orphanet J Rare Dis 2019-00-15

...NF1 patients and 138 aged-matched healthy controls. As expected, expression analysis showed that NF1 isoforms I and II l...

The importance of suicide risk assessment in patients affected by neurofibromat…

Berardelli(I),Maraone(A),Belvisi(D),Pasquini… Int J Psychiatry Clin Pract 2021-11-00

...NF1. We enrolled 60 patients with NF1 and 50 healthy controls with no history of NF1. Patients underwent a full psychiat...

Natural history and outcome of optic pathway gliomas in children.

Nicolin(G),Parkin(P),Mabbott(D),Hargrave(D),… Pediatr Blood Cancer 2009-12-15

...NF1; 87 (71 NF1) were observed initially, of whom 23 (11 NF1) subsequently required treatment. Forty-six patients receiv...

Neurofibromatosis type 1: pathology, clinical features and molecular genetics.

von Deimling(A),Krone(W),Menon(AG) Brain Pathol 1995-04-00

...NF1 patients showing homozygous deletions in the NF1 gene, these data suggest a role for NF1 as a "tumor suppressor". Ev...

Identification of de novo deletions at the NF1 gene: no preferential paternal o…

Valero(MC),Pascual-Castroviejo(I),Velasco(E)… Hum Genet 1997-06-00

...NF1) is a common autosomal dominant disorder. To date, a relatively small number of NF1 mutations have been characterize...

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenoty…

Zhang(J),Tong(H),Fu(X),Zhang(Y),Liu(J),Cheng… Sci Rep 2015-06-09

...NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreov...

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you …

Pasmant(E),Parfait(B),Luscan(A),Goussard(P),… Eur J Hum Genet 2015-05-00

...NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated t...

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofi…

Emmerich(D),Zemojtel(T),Hecht(J),Krawitz(P),… Eur J Hum Genet 2015-06-00

...NF1. Our study demonstrated that somatic mutations of NF1 are likely the main drivers of cutaneous tumor formation. The ...

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