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Items: 1 to 20 of 25

1.
Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family
Yu-Hua Fan, Jian Sun, Yun Yuan, Ling Chen, Zhong Pei, Shi-Hui Xing, Bing Liao, Jin-Sheng Zeng
Int J Clin Exp Pathol. 2015; 8(8): 9105–9111. Published online 2015 Aug 1.
PMCID:
PMC4583885
AbstractArticlePDF–780K
2.
Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms.
K Borg, G Ahlberg, J Borg, L Edström
J Neurol Neurosurg Psychiatry. 1991 Jun; 54(6): 494–498. doi: 10.1136/jnnp.54.6.494
PMCID:
PMC488585
SummaryPage BrowsePDF–1.2M
3.
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
G Boysen, G Galassi, Z Kamieniecka, J Schlaeger, W Trojaborg
J Neurol Neurosurg Psychiatry. 1979 Nov; 42(11): 1020–1030. doi: 10.1136/jnnp.42.11.1020
PMCID:
PMC490396
SummaryPage BrowsePDF–1.6M
4.
Neurogenic scapuloperoneal syndrome in childhood.
R Mercelis, J Demeester, J J Martin
J Neurol Neurosurg Psychiatry. 1980 Oct; 43(10): 888–896. doi: 10.1136/jnnp.43.10.888
PMCID:
PMC490709
SummaryPage BrowsePDF–2.9M
5.
Oculopharyngeal involvement in familial neurogenic muscular atrophy
M. Matsunaga, T. Inokuchi, A. Ohnishi, Y. Kuroiwa
J Neurol Neurosurg Psychiatry. 1973 Feb; 36(1): 104–111. doi: 10.1136/jnnp.36.1.104
PMCID:
PMC494283
SummaryPage BrowsePDF–1.9M
6.
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.
L Palmucci, T Mongini, C Doriguzzi, M Maniscalco, D Schiffer
J Neurol Neurosurg Psychiatry. 1991 Jan; 54(1): 42–45. doi: 10.1136/jnnp.54.1.42
PMCID:
PMC1014297
SummaryPage BrowsePDF–1.1M
7.
Autosomal dominant muscle cramp syndrome in a Japanese family
S Chiba, M Saitoh, Y Hatanaka, M Kashiwagi, T Imai, H Matsumoto, R Minami
J Neurol Neurosurg Psychiatry. 1999 Jul; 67(1): 116–119. doi: 10.1136/jnnp.67.1.116
PMCID:
PMC1736444
SummaryPDF–107K
8.
The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety
D. A. Isenberg, Pauline A. Kahn
Postgrad Med J. 1982 Sep; 58(683): 554–557. doi: 10.1136/pgmj.58.683.554
PMCID:
PMC2426452
SummaryPage BrowsePDF–1.0M
9.
Heterogeneous patterns of tissue injury in NARP syndrome
Jeffrey M. Gelfand, Jacque L. Duncan, Caroline A. Racine, Leslie A. Gillum, Cynthia T. Chin, Yuhua Zhang, Qing Zhang, Lee-Jun C. Wong, Austin Roorda, Ari J. Green
J Neurol. 2011; 258(3): 440–448. Published online 2010 Oct 16. doi: 10.1007/s00415-010-5775-1
PMCID:
PMC3068520
AbstractArticlePDF–409K
10.
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes
Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter
BMC Med Genet. 2013; 14: 92. Published online 2013 Sep 16. doi: 10.1186/1471-2350-14-92
PMCID:
PMC3848428
AbstractArticlePDF–1.1M
11.
Motor neuron involvement in multisystem proteinopathy: Implications for ALS
Michael Benatar, Joanne Wuu, Catalina Fernandez, Conrad C. Weihl, Heather Katzen, Julie Steele, Bjorn Oskarsson, J. Paul Taylor
Neurology. 2013 May 14; 80(20): 1874–1880. doi: 10.1212/WNL.0b013e3182929fc3
PMCID:
PMC3908355
AbstractArticlePDF–325K
12.
Teaching Video NeuroImages: Muscle cramps and a raised creatine kinase
Roger G. Whittaker, Patrick F. Chinnery, James A.L. Miller
Neurology. 2014 Jun 17; 82(24): e220–e221. doi: 10.1212/WNL.0000000000000534
PMCID:
PMC4113459
AbstractArticlePDF–231K
13.
Expanding the Phenotype Associated With the NEFL Mutation Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings
Pankaj B. Agrawal, Mugdha Joshi, Nicholas S. Marinakis, Klaus Schmitz-Abe, Pedro D. S. C. Ciarlini, Jane C. Sargent, Kyriacos Markianos, Umberto De Girolami, David A. Chad, Alan H. Beggs
JAMA Neurol. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: JAMA Neurol. 2014 Nov 1; 71(11): 1413–1420. doi: 10.1001/jamaneurol.2014.1432
PMCID:
PMC4227917
AbstractArticlePDF–853K
14.
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
Brain. 2024 Jul; 147(7): 2334–2343. Published online 2024 Mar 25. doi: 10.1093/brain/awae091
PMCID:
PMC11224604
AbstractArticlePDF–745K
15.
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study
Jingzhe Han, Xueqin Song, Shan Lu, Guang Ji, Yanan Xie, Hongran Wu
Med Sci Monit. 2019; 25: 9103–9111. Published online 2019 Nov 30. doi: 10.12659/MSM.918841
PMCID:
PMC6900922
AbstractArticlePDF–3.1M
16.
New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity
Wo‐Tu Tian, Li‐Hua Liu, Hai‐Yan Zhou, Chao Zhang, Fei‐Xia Zhan, Ze‐Yu Zhu, Sheng‐Di Chen, Xing‐Hua Luan, Li Cao
Ann Clin Transl Neurol. 2020 Feb; 7(2): 200–209. Published online 2020 Feb 5. doi: 10.1002/acn3.50985
PMCID:
PMC7034498
AbstractArticlePDF–1.3M
17.
婴儿神经轴索营养不良的临床特点及PLA2G6基因分析
陆 瑶, 刘 春花, 王 杨
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Sep 25; 21(9): 851–855. Chinese. doi: 10.7499/j.issn.1008-8830.2019.09.002
PMCID:
PMC7390253
AbstractArticlePDF–1.7M
18.
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations
Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
Orphanet J Rare Dis. 2020; 15: 344. Published online 2020 Dec 9. doi: 10.1186/s13023-020-01626-y
PMCID:
PMC7727133
AbstractArticlePDF–1.4M
19.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Sandra Donkervoort, Natalia Dominik, Marlen Lauffer, Matteo P Ferla, Andrea Orioli, Adam Giess, Arianna Tucci, Christian Beetz, Maryam Sedghi, Behnaz Ansari, Rita Barresi, Keivan Basiri, Andrea Cortese, Greg Elgar, Miguel A Fernandez-Garcia, Janice Yip, A Reghan Foley, Nicholas Gutowski, Heinz Jungbluth, Saskia Lassche, Tim Lavin, Carlo Marcelis, Peter Marks, Chiara Marini-Bettolo, Livija Medne, Ali-Reza Moslemi, Anna Sarkozy, Mary M Reilly, Francesco Muntoni, Francisca Millan, Colleen C Muraresku, Anna C Need, Andrea H Nemeth, Sarah B Neuhaus, Fiona Norwood, Marie O'Donnell, Mary O’Driscoll, Julia Rankin, Sabrina W Yum, Zarazuela Zolkipli-Cunningham, Isabell Brusius, Gilbert Wunderlich, Genomics England Research Consortium , Mert Karakaya, Brunhilde Wirth, Khalid A Fakhro, Homa Tajsharghi, Carsten G Bönnemann, Jenny C Taylor, Henry Houlden
Brain. 2021 Feb; 144(2): 584–600. Published online 2021 Jan 18. doi: 10.1093/brain/awaa420
PMCID:
PMC8263055
AbstractArticlePDF–1.6M
20.
远端型遗传性运动神经病8例的临床、病理及遗传学特点
刘 梅歌, 方 朴, 王 严, 丛 璐, 范 洋溢, 袁 远, 徐 燕, 张 俊, 洪 道俊
Beijing Da Xue Xue Bao Yi Xue Ban. 2021 Oct 18; 53(5): 957–963. Chinese. Published online 2021 May 12. doi: 10.19723/j.issn.1671-167X.2021.05.025
PMCID:
PMC8517674
AbstractArticlePDF–3.2M

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