Neuro genetics

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia
Jacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara Castellotti

Case Reports Feb 2018, 2018 bcr-2017-223390; DOI: 10.1136/bcr-2017-223390
‘If there were water we should stop and drink’: neurofibromatosis presenting with diabetes insipidus
Rachel Barry, Antoinette O' Connor, Mohn Hazriq Awang, Orna O' Toole

Case Reports Feb 2018, 2018 bcr-2017-222741; DOI: 10.1136/bcr-2017-222741
Thoracic manifestations of segmental neurofibromatosis
Nader Chebib, Patrick Combemale, Denis Jullien, Vincent Cottin

Case Reports Sep 2017, 2017 bcr-2017-221253; DOI: 10.1136/bcr-2017-221253
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Kazuo Abe, Norio Sakai

Case Reports Aug 2017, 2017 bcr-2017-220134; DOI: 10.1136/bcr-2017-220134
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome
Jessica Merritt, Joseph C Hart, Tracy L LeGrow

Case Reports Jul 2017, 2017 bcr-2017-219930; DOI: 10.1136/bcr-2017-219930
An elusive ciliopathy: Joubert syndrome
Carlo Canepa, Ben Burton, Abdul Muhith

Case Reports Jun 2017, 2017 bcr-2017-220459; DOI: 10.1136/bcr-2017-220459
Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez

Case Reports Jun 2017, 2017 bcr-2016-218861; DOI: 10.1136/bcr-2016-218861
Myeloneuropathy due to multiple giant plexiform neurofibromas - an unusual presentation of neurofibromatosis type 1
Jaslovleen Kaur, Birinder Singh Paul, Kavita Saggar, Jagandeep Singh Virk

Case Reports May 2017, 2017 bcr-2017-220092; DOI: 10.1136/bcr-2017-220092

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Neuro genetics

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