Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

106 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Among authors: manzur ay. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
Generalized calcification in a case of dermatomyositis.
Jungbluth H, Manzur AY, Bydder G, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Neuromuscul Disord. 2000 Feb;10(2):150. doi: 10.1016/s0960-8966(99)00067-x. Neuromuscul Disord. 2000. PMID: 10714592 No abstract available.
An unusual case of hyperekplexia.
Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074
106 results