Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy-Reference-Cited by-同舟云学术

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

Published:2015-04-13 Issue:6 Volume:7 Page:848-858
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Pippucci Tommaso¹²,Maresca Alessandra³⁴,Magini Pamela²,Cenacchi Giovanna⁴,Donadio Vincenzo³,Palombo Flavia²,Papa Valentina⁴,Incensi Alex³,Gasparre Giuseppe²,Valentino Maria Lucia³⁴,Preziuso Carmela⁵,Pisano Annalinda⁵,Ragno Michele⁶,Liguori Rocco³⁴,Giordano Carla⁵,Tonon Caterina⁴⁷,Lodi Raffaele⁴⁷,Parmeggiani Antonia²⁸,Carelli Valerio³⁴,Seri Marco¹²

Affiliation:

1. U.O. Genetica Medica, Policlinico Sant'Orsola‐Malpighi Bologna Italy

2. Dipartimento di Scienze Mediche Chirurgiche (DIMEC) University of Bologna Bologna Italy

3. IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy

4. Unita' di Neurologia Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM) University of Bologna Bologna Italy

5. Dipartimento di Scienze Radiologiche Oncologiche ed Anatomopatologiche, Sapienza University of Rome Rome Italy

6. Divisione di Neurologia Ospedale Mazzoni Azienda Sanitaria Unica Regionale Ascoli Piceno Italy

7. Unità Risonanza Magnetica Funzionale Policlinico S.Orsola‐Malpighi Bologna Italy

8. U.O. Neuropsichiatria Infantile Policlinico S.Orsola‐Malpighi Bologna Italy

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.201404399

Reference33 articles.

1. Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

2. CADASIL

3. A new de novo Notch3 mutation causing CADASIL

4. A framework for variation discovery and genotyping using next-generation DNA sequencing data

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