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Items: 1 to 20 of 66

1.
A rare case of SCHMID metaphyseal chondrodysplasia associated with hypothyroidism,growth hormone deficiency and celiac disease: case report
Ahmad Chreitah, Fatima Bress, Omar Aljanati, Zeina Alkilany, Aria Mohammed, Fatima Kherbek
Ann Med Surg (Lond) 2023 Aug; 85(8): 4045–4049. Published online 2023 Jun 28. doi: 10.1097/MS9.0000000000000751
PMCID:
PMC10406062
ArticlePDF–370K
2.
A Possible Case of Centronuclear Myopathy: A Case Report
Narjara Castillo-Ferrán, Juan Mario Junco-Rodriguez, Zurina Lestayo-O’Farrill, María de los Angeles Robinson-Agramonte, Zoilo Camejo-León, Héctor Jesús Gómez-Suárez, Mercedes Salinas-Olivares, Evelyn Antiguas-Valdez, Elizabeth Falcón-Lamazares, Dario Siniscalco
Medicina (Kaunas) 2023 Jun; 59(6): 1112. Published online 2023 Jun 8. doi: 10.3390/medicina59061112
PMCID:
PMC10301121
ArticlePDF–14M
3.
Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos
Luz M. Sánchez-Sánchez, Valentina Martínez-Montoya, Roberto Sandoval-Pacheco, Benjamín Torres-Octavo, Diana M. Anaya-Castro, Ofelia Padilla-de la Torre, Carmen A. Arellano-Valdez, Carmen A. Ávila-Rejón, Pedro A. Aguilar-Juárez, Martín Espino-Pluma, Antonio González-Santillanes Cruz, Ekaterina Kazakova, Rosa I. Martinez-Segovia, Dorian Olmos-Morfin, Pablo F. Radillo-Díaz, Ishar Solís-Sánchez, Mónica Vázquez Del Mercado-Espinosa, Camilo E. Villarroel-Cortés, Jesús S. Velarde-Félix
Rev Neurol. 2022; 75(5): 103–108. Spanish. Published online 2022 Sep 1. doi: 10.33588/rn.7505.2022227
PMCID:
PMC10280748
ArticlePDF–812K
4.
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai
BMC Pediatr. 2022; 22: 601. Published online 2022 Oct 17. doi: 10.1186/s12887-022-03662-y
PMCID:
PMC9575219
ArticlePDF–1.2M
5.
Rickets guidance: part I—diagnostic workup
Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel
Pediatr Nephrol. 2022; 37(9): 2013–2036. Published online 2021 Dec 15. doi: 10.1007/s00467-021-05328-w
PMCID:
PMC9307538
ArticlePDF–4.9M
6.
Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
Iqra Aziz, Mark Davis, Christina Liang
BMJ Case Rep. 2022; 15(3): e248297. Published online 2022 Mar 29. doi: 10.1136/bcr-2021-248297
PMCID:
PMC8968532
ArticlePDF–654K
7.
Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease
Hye Jin Kim, Sang Beom Kim, Hyun Su Kim, Hye Mi Kwon, Jae Hong Park, Ah Jin Lee, Si On Lim, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Byung‐Ok Choi
Mol Genet Genomic Med. 2022 Feb; 10(2): e1870. Published online 2022 Jan 19. doi: 10.1002/mgg3.1870
PMCID:
PMC8830812
ArticlePDF–1.3M
8.
Modulation of Ryanodine Receptors Activity Alters the Course of Experimental Autoimmune Encephalomyelitis in Mice
Natalia C. Osipchuk, Athena M. Soulika, Alla F. Fomina
Front Physiol. 2021; 12: 770820. Published online 2021 Dec 17. doi: 10.3389/fphys.2021.770820
PMCID:
PMC8751758
ArticlePDF–3.8M
9.
“Video Technique on Clinical Tests for DDH”: New-Born to Walking Age
Atul Bhaskar, Chintan Doshi, Taral Nagda, Daksh Bhaskar
Indian J Orthop. 2021 Dec; 55(6): 1596. Published online 2021 Oct 28. doi: 10.1007/s43465-021-00528-w
PMCID:
PMC8688681
ArticlePDF–319K
10.
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier
Orphanet J Rare Dis. 2021; 16: 507. Published online 2021 Dec 14. doi: 10.1186/s13023-021-02134-3
PMCID:
PMC8670257
ArticlePDF–1.5M
11.
Development of outcome measures according to dystrophic phenotypes in canine X-linked muscular dystrophy in Japan
Mutsuki Kuraoka, Yoshitsugu Aoki, Shin’ichi Takeda
Exp Anim. 2021; 70(4): 419–430. Published online 2021 Jun 16. doi: 10.1538/expanim.21-0072
PMCID:
PMC8614006
ArticlePDF–1.3M
12.
A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report
Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda
BMC Endocr Disord. 2021; 21: 214. Published online 2021 Oct 24. doi: 10.1186/s12902-021-00876-6
PMCID:
PMC8543963
ArticlePDF–972K
13.
Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia
Gabriel T. Mindler, Andreas Kranzl, Alexandra Stauffer, Roland Kocijan, Rudolf Ganger, Christof Radler, Gabriele Haeusler, Adalbert Raimann
Front Endocrinol (Lausanne) 2021; 12: 754084. Published online 2021 Sep 27. doi: 10.3389/fendo.2021.754084
PMCID:
PMC8503556
ArticlePDF–6.3M
14.
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis
Margarita Marchuk, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, Yevheniya Sharhorodska
Brain Sci. 2021 Aug; 11(8): 1020. Published online 2021 Jul 31. doi: 10.3390/brainsci11081020
PMCID:
PMC8391900
ArticlePDF–1.5M
15.
Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang
BMC Med Genomics. 2021; 14: 170. Published online 2021 Jun 28. doi: 10.1186/s12920-021-01020-y
PMCID:
PMC8240210
ArticlePDF–1.5M
16.
Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case
Patricia Diaz Escagedo, Melissa Fiscaletti, Patricia Olivier, Chloé Hudon, Valancy Miranda, Marie-Claude Miron, Philippe M. Campeau, Nathalie Alos
BMC Pediatr. 2021; 21: 248. Published online 2021 May 22. doi: 10.1186/s12887-021-02716-x
PMCID:
PMC8140414
ArticlePDF–1.2M
17.
Normocalcemic Primary Hyperparathyroidism Presenting with Muscle Weakness and Body Pain
Izumi Mihashi, Kazuhiro Ishii, Yasuhiro Ogawa, Ayako Uchida, Hisato Hara, Akira Tamaoka
Intern Med. 2021 Mar 15; 60(6): 953–956. Published online 2020 Nov 30. doi: 10.2169/internalmedicine.6131-20
PMCID:
PMC8024951
ArticlePDF–506K
18.
A Constellation of Orthopaedic Deformities in Connection with Cartilage Oligomeric Matrix Protein Mutation
Ali Al Kaissi, Maher Ben Ghachem, Vladimir Kenis, Eugene Melchenko, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Afr J Paediatr Surg. 2019 Jan-Dec; 16(1-4): 23–28. Published online 2020 Sep 16. doi: 10.4103/ajps.AJPS_90_17
PMCID:
PMC7759081
ArticlePDF–1.1M
19.
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
Marina de França, Maria de Fátima de Faria Soares, Ana Luiza Pilla Luce, Eduardo Perrone
Radiol Case Rep. 2020 Dec; 15(12): 2554–2556. Published online 2020 Oct 7. doi: 10.1016/j.radcr.2020.08.005
PMCID:
PMC7553887
ArticlePDF–499K
20.
Functional gait disorders: A sign-based approach
Jorik Nonnekes, Evžen Růžička, Tereza Serranová, Stephen G. Reich, Bastiaan R. Bloem, Mark Hallett
Neurology. 2020 Jun 16; 94(24): 1093–1099. doi: 10.1212/WNL.0000000000009649
PMCID:
PMC7455329
ArticlePDF–218K

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