Jose Millan on Muck Rack

Jose Millan

As seen in: Radio Bahia, Nature, Wiley Online Library, MDPI, Taylor & Francis Online, Vozpópuli, Diario Información, Dialnet - Universidad de La Rioja, Revista de Libros
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Articles

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification

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By Alba Berzal-Serrano, Iván Lesende, Lidón Carretero-Vilarroig, Teresa Jaijo, Karolina Aragon-Gawinska, Inmaculada Pitarch-Castellano, Juan Francisco Vazquez-Costa, Elena Aller, Jose Millan, Gema García-García, Sonia González-Alvaredo, Ignacio Onsurbe, Nancy Carolina Ñungo-Garzón
| Nature Verified
Abstract Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic disruption of the Survival Motor Neuron 1 (SMN1) gene. Accurate quantification of Survival Motor Neuron 2 (SMN2) copy number is essential for patient stratification, prognosis, and treatment decisions, yet remains challenging at high copy numbers and does not fully explain phenotypic variability. We compared complementary molecular approaches in 78 Spanish patients with genetically confirmed SMA.
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La ventana en el muro

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By Jose Millan, José Antonio Millan
| Revista de Libros Verified
La novela de Barcarrota empieza, como tantas otras, con el hallazgo de un manuscrito, o mejor dicho, de una decena de libros y un manuscrito. Corría el año 1992, y en la casa del pequeño pueblo de la provincia de Badajoz se estaban haciendo reformas: la piqueta horadó el muro y descubrió un hueco, dejando de paso su huella en el centro de uno de los volúmenes.
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Una tras otra: penetramos en la más antigua de las tecnologías de la lengua, la escritura, con uno de sus recursos menos previsibles: las listas

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By Jose Millan, José Antonio Millan
| Dialnet - Universidad de La Rioja
IdiomacatalàDeutschEnglishespañoleuskarafrançaisgalegoitalianoportuguêsromână
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