Publications by authors named "Alessandra Pennisi"

8Publications

Biallelic IARS2 mutations presenting as sideroblastic anemia.

Authors:
Giulia Barcia Dinusha Pandithan Benedetta Ruzzenente Zahra Assouline Alessandra Pennisi Clothilde Ormieres Claude Besmond Charles-Joris Roux Nathalie Boddaert Isabelle Desguerre David R Thorburn Drago Bratkovic Arnold Munnich Jean-Paul Bonnefont Agnès Rötig Julie Steffann

Haematologica 2020 Dec 17;Online ahead of print. Epub 2020 Dec 17.

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.

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December 2020

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Authors:
Alessandra Pennisi Agnès Rötig Charles-Joris Roux Raphaël Lévy Marco Henneke Jutta Gärtner Pelin Teke Kisa Fatma Ceren Sarioglu Uluç Yiş Laura L Konczal Deepika D Burkardt Sulin Wu Pauline Gaignard Claude Besmond Laurence Hubert Marlène Rio Giulia Barcia Arnold Munnich Nathalie Boddaert Manuel Schiff

J Med Genet 2020 Nov 16. Epub 2020 Nov 16.

Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France

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November 2020

Improving post-natal detection of mitochondrial DNA mutations.

Authors:
Giulia Barcia Zahra Assouline Maryse Magen Alessandra Pennisi Agnès Rötig Arnold Munnich Jean-Paul Bonnefont Julie Steffann

Expert Rev Mol Diagn 2020 Oct 20;20(10):1003-1008. Epub 2020 Sep 20.

Université de Paris et Service de Génétique Moléculaire, Reference Center for Mitochondrial Diseases (CARAMMEL), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris , Paris, France.

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October 2020

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.

Authors:
Giulia Barcia Sonia Khirani Alessandro Amaddeo Zahra Assouline Alessandra Pennisi Nathalie Boddaert Norma Romero Isabelle Desguerre Manuel Schiff Agnès Rötig Claude Besmond Jean-Paul Bonnefont Arnold Munnich Brigitte Fauroux

Neuromuscul Disord 2020 07 10;30(7):593-598. Epub 2020 Jun 10.

Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker-Enfants Malades, Paris, France; VIFASOM, Université de Paris, Paris, France.

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July 2020

Cytochrome c oxidase deficiency caused by biallelic mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.

Authors:
Giulia Barcia Zahra Assouline Alessandra Pennisi Cyril Gitiaux Manuel Schiff Nathalie Boddaert Arnold Munnich Jean-Paul Bonnefont Agnès Rötig

Mol Genet Metab Rep 2019 Dec 6;21:100528. Epub 2019 Nov 6.

Fédération de Génétique Médicale, Hôpital Necker Enfants Malades, Paris, France.

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December 2019

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.

Authors:
Alessandra Pennisi Bruno Maranda Jean-François Benoist Véronique Baudouin Odile Rigal Samia Pichard René Santer Francesca Romana Lepri Antonio Novelli Hélène Ogier de Baulny Carlo Dionisi-Vici Manuel Schiff

J Inherit Metab Dis 2020 05 1;43(3):540-548. Epub 2020 Jan 1.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, Paris, France.

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May 2020

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Authors:
Giulia Barcia Zahra Assouline Alessandra Pennisi Julie Steffann Nathalie Boddaert Cyril Gitiaux Agnès Rötig Jean-Paul Bonnefont Arnold Munnich

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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December 2019

Expanding the clinical spectrum of mutations.

Authors:
Giulia Barcia Zahra Assouline Alessandra Pennisi Julie Steffann Nathalie Boddaert Cyril Gitiaux Agnès Rötig Jean-Paul Bonnefont Arnold Munnich

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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December 2019