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Select item 59955451.

X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara

Einstein (Sao Paulo) 2018; 16(2): eRC4011. Published online 2018 May 25. doi: 10.1590/S1679-45082018RC4011

PMCID:: PMC5995545

Abstract Article PDF–385K

Select item 10511462.

Muscular involvement in the Holt-Oram syndrome.

S Spranger, H Ulmer, J Tröger, O Jansen, J Graf, H M Meinck, M Spranger

J Med Genet. 1997 Dec; 34(12): 978–981. doi: 10.1136/jmg.34.12.978

PMCID:: PMC1051146

Summary Page Browse PDF–1.4M

Select item 26564933.

Amyotrophic lateral sclerosis

Lokesh C Wijesekera, P Nigel Leigh

Orphanet J Rare Dis. 2009; 4: 3. Published online 2009 Feb 3. doi: 10.1186/1750-1172-4-3

PMCID:: PMC2656493

Abstract Article PDF–2.1M

Select item 29184784.

Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

M.B. Harms, P. Allred, R. Gardner, Jr., J.A. Fernandes Filho, J. Florence, A. Pestronk, M. Al-Lozi, R.H. Baloh

Neurology. 2010 Aug 10; 75(6): 539–546. doi: 10.1212/WNL.0b013e3181ec800c

PMCID:: PMC2918478

Abstract Article PDF–2.2M

Select item 29873365.

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

Luigi Bisceglia, Stefano Zoccolella, Alessandra Torraco, Maria Rosaria Piemontese, Rosa Dell'Aglio, Angela Amati, Patrizia De Bonis, Lucia Artuso, Massimiliano Copetti, Filippo Maria Santorelli, Luigi Serlenga, Leopoldo Zelante, Enrico Bertini, Vittoria Petruzzella

Eur J Hum Genet. 2010 Jun; 18(6): 636–641. Published online 2010 Jan 13. doi: 10.1038/ejhg.2009.235

PMCID:: PMC2987336

Abstract Article PDF–378K

Select item 35951486.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Toshiaki Takahashi, Masashi Aoki, Naoki Suzuki, Maki Tateyama, Chikako Yaginuma, Hitomi Sato, Miho Hayasaka, Hitomi Sugawara, Mariko Ito, Emi Abe-Kondo, Naoko Shimakura, Tohru Ibi, Satoshi Kuru, Tadashi Wakayama, Gen Sobue, Naoki Fujii, Toshio Saito, Tsuyoshi Matsumura, Itaru Funakawa, Eiichiro Mukai, Toru Kawanami, Mitsuya Morita, Mineo Yamazaki, Takashi Hasegawa, Jun Shimizu, Shoji Tsuji, Shigeki Kuzuhara, Hiroyasu Tanaka, Masaru Yoshioka, Hidehiko Konno, Hiroshi Onodera, Yasuto Itoyama

J Neurol Neurosurg Psychiatry. 2013 Apr; 84(4): 433–440. Published online 2012 Dec 15. doi: 10.1136/jnnp-2011-301339

PMCID:: PMC3595148

Abstract Article PDF–215K

Select item 42598517.

Atypical presentation of GNE myopathy with asymmetric hand weakness

John Karl L. de Dios, Joseph A. Shrader, Galen O. Joe, Jeffrey C. McClean, Kayla Williams, Robert Evers, May Christine V. Malicdan, Carla Ciccone, Ami Mankodi, Marjan Huizing, John C. McKew, David A. Bluemke, William A. Gahl, Nuria Carrillo-Carrasco

Neuromuscul Disord. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2014 Dec; 24(12): 1063–1067. Published online 2014 Aug 7. doi: 10.1016/j.nmd.2014.07.006

PMCID:: PMC4259851

Abstract Article PDF–1023K

Select item 43068228.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Alexander M. Rossor, Emily C. Oates, Hannah K. Salter, Yang Liu, Sinead M. Murphy, Rebecca Schule, Michael A. Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A. Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N. Herrmann, Julian Blake, Janet E. Sowden, Gyuda Acsadi, Michael L. Rodriguez, Manoj P. Menezes, Nigel F. Clarke, Michaela Auer Grumbach, Simon L. Bullock, Francesco Muntoni, Mary M. Reilly, Kathryn N. North

Brain. 2015 Feb; 138(2): 293–310. Published online 2014 Dec 14. doi: 10.1093/brain/awu356

PMCID:: PMC4306822

Abstract Article PDF–1.4M

Select item 44126689.

Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1

Kazuma Sugie, Miho Sugie, Toshio Taoka, Yasuyo Tonomura, Aya Kumazawa, Tesseki Izumi, Kimihiko Kichikawa, Satoshi Ueno

PLoS One. 2015; 10(4): e0125051. Published online 2015 Apr 28. doi: 10.1371/journal.pone.0125051

PMCID:: PMC4412668

Abstract Article PDF–578K

Select item 570256710.

RYR1 causing distal myopathy

Ruple S. Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone

Mol Genet Genomic Med. 2017 Nov; 5(6): 800–804. Published online 2017 Oct 4. doi: 10.1002/mgg3.338

PMCID:: PMC5702567

Abstract Article PDF–1.1M

Select item 573590011.

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao

Orphanet J Rare Dis. 2017; 12: 182. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0732-z

PMCID:: PMC5735900

Abstract Article PDF–724K

Select item 595322812.

Bethlem myopathy in a Portuguese patient – case report

ANA INÊS MARTINS, CRISTIN MAARQUE, JORGE PINTO-BASTO, LUIS NEGRÃO

Acta Myol. 2017 Sep; 36(3): 178–181. Published online 2017 Sep 1.

PMCID:: PMC5953228

Abstract Article PDF–461K

Select item 598559313.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family

Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan, Xue-fan Yu

BMC Neurol. 2018; 18: 79. Published online 2018 Jun 4. doi: 10.1186/s12883-018-1078-4

PMCID:: PMC5985593

Abstract Article PDF–4.0M

Select item 995625314.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders

Pitcha Chompoopong, Margherita Milone

Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372

PMCID:: PMC9956253

Abstract Article PDF–10M

Select item 630221915.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Pedro J. Tomaselli, Alejandro Horga, Alexander M. Rossor, Zane Jaunmuktane, Andrea Cortese, Julian C. Blake, Natalia Zarate-Lopez, Henry Houlden, Mary M. Reilly

Neuromuscul Disord. 2018 Dec; 28(12): 1012–1015. doi: 10.1016/j.nmd.2018.08.010

PMCID:: PMC6302219

Abstract Article

Select item 637335216.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Markus T. Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa

J Neurol. 2019; 266(2): 353–360. Published online 2018 Dec 4. doi: 10.1007/s00415-018-9137-8