Literature DB >> 34983943

Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first.

Ashley Crook1,2, Alison McEwen3.   

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Year:  2022        PMID： 34983943      PMCID： PMC8990066          DOI： 10.1038/s41431-021-01036-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  18 in total

1.  A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

Authors:  Robert Resta; Barbara Bowles Biesecker; Robin L Bennett; Sandra Blum; Susan Estabrooks Hahn; Michelle N Strecker; Janet L Williams
Journal:  J Genet Couns       Date:  2006-04       Impact factor: 2.537

2.  Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices.

Authors:  Kristiana Salmon; Nancy Anoja; Ari Breiner; Marvin Chum; Annie Dionne; Nicolas Dupré; Amanda Fiander; Daniel Fok; Amer Ghavanini; Sylvie Gosselin; Aaron Izenberg; Wendy Johnston; Sanjay Kalra; Geneviève Matte; Michel Melanson; Colleen O'Connell; Benjamin Ritsma; Kerri Schellenberg; Christen Shoesmith; Sandra Tremblay; Heather Williams; Angela Genge
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2021-09-27       Impact factor: 4.092

3.  Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.

Authors:  Lucie Pierron; Juliette Hennessy; Sophie Tezenas du Montcel; Giulia Coarelli; Anna Heinzmann; Elodie Schaerer; Ariane Herson; Elodie Petit; Marcela Gargiulo; Alexandra Durr
Journal:  Eur J Hum Genet       Date:  2020-12-09       Impact factor: 4.246

4.  Normalising life at risk of Huntington's disease. A qualitative study of backgrounds and coping strategies of fears of genetic discrimination.

Authors:  Annet Wauters; Ine Van Hoyweghen
Journal:  Eur J Hum Genet       Date:  2021-02-16       Impact factor: 5.351

5.  Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing.

Authors:  Amicia Phillips; Emilia Niemiec; Heidi Carmen Howard; Kalliopi Kagkelari; Pascal Borry; Danya F Vears
Journal:  Eur J Hum Genet       Date:  2020-04-27       Impact factor: 4.246

6.  Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together.

Authors:  Carla Roma Oliveira; Álvaro Mendes; Jorge Sequeiros; Liliana Sousa
Journal:  Eur J Hum Genet       Date:  2020-04-27       Impact factor: 4.246

Review 7.  Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.

Authors:  Ashley Crook; Chris Jacobs; Toby Newton-John; Rosie O'Shea; Alison McEwen
Journal:  J Neurol       Date:  2021-03-01       Impact factor: 6.682

8.  De novo mutations in SOD1 are a cause of ALS.

Authors:  Kathrin Müller; Ki-Wook Oh; Angelica Nordin; Sudhan Panthi; Seung Hyun Kim; Frida Nordin; Axel Freischmidt; Albert C Ludolph; Chang Seok Ki; Karin Forsberg; Jochen Weishaupt; Young-Eun Kim; Peter Munch Andersen
Journal:  J Neurol Neurosurg Psychiatry       Date:  2021-09-13       Impact factor: 10.154

Review 9.  Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants.

Authors:  Carolyn A Brown; Cathy Lally; Varant Kupelian; W Dana Flanders
Journal:  Neuroepidemiology       Date:  2021-07-09       Impact factor: 3.282

Review 10.  The Global State of the Genetic Counseling Profession.

Authors:  MaryAnn Abacan; Lamia Alsubaie; Kristine Barlow-Stewart; Beppy Caanen; Christophe Cordier; Eliza Courtney; Emeline Davoine; Janice Edwards; Niby J Elackatt; Kate Gardiner; Yue Guan; Lian-Hua Huang; Charlotta Ingvoldstad Malmgren; Sahil Kejriwal; Hyon J Kim; Deborah Lambert; Paulina Araceli Lantigua-Cruz; Juliana M H Lee; Marianne Lodahl; Åshild Lunde; Shelley Macaulay; Ivan Macciocca; Sonia Margarit; Anna Middleton; Ramona Moldovan; Joanne Ngeow; Alexandra J Obregon-Tito; Kelly E Ormond; Milena Paneque; Karen Powell; Kunal Sanghavi; Diana Scotcher; Jenna Scott; Clara Serra Juhé; Shiri Shkedi-Rafid; Tina-Marié Wessels; Sook-Yee Yoon; Catherine Wicklund
Journal:  Eur J Hum Genet       Date:  2018-10-05       Impact factor: 4.246
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