Publicaciones científicas

Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS.

Año publicación:

2020

Número de revista:

Neurology vol. 95 n. 6

https://n.neurology.org/content/95/6/e718

Artículo

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

Autor/es:

Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs GG, Molnar MJ

Año publicación:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 5

https://ng.neurology.org/content/6/5/e515

Una iniciativa de:

Buscador

Nonoptic pathway tumors in children with neurofibromatosis type 1.

North American Brain Injury Society

Not Always as It Seems: A Case of Ascending Paralysis

NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population

Notching towards better understanding of CADASIL.

NOVEL ACTIVITY DETECTION ALGORITHM TO CHARACTERIZE SPONTANEOUS STEPPING DURING MULTIMODAL SPINAL NEUROMODULATION AFTER MID-THORA

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

Novel and known morbidities of leukodystrophies identified using a phenome-wide association study

Novel approaches to quantify CNS involvement in children with Pompe disease.

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

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