نتائج البحث

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.

• Authors : Lehtokari, Vilma-Lotta^1,2 (AUTHOR) ; Similä, Minna³ (AUTHOR); Tammepuu, Marianne⁴ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 11/30/2023, Vol. 18 Issue 1, p1-12. 12p.

تفاصيل العنوان

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

• Authors : Haiming Yuan; Qingming Wang; Xiumei Zeng

Subjects: KLHL40; Nemaline myopathy; Polyhydramnios

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

تفاصيل العنوان

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.

• Authors : Schnitzler, Lukas J.^1,2; Schreckenbach, Tobias³; Nadaj-Pakleza, Aleksandra⁴

• Source: Orphanet Journal of Rare Diseases. 5/11/2017, Vol. 12, p1-12. 12p.

تفاصيل العنوان

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.

• Authors : Yu, Meng¹ (AUTHOR); Zhu, Ying² (AUTHOR); Lu, Yuanyuan¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/9/2020, Vol. 15 Issue 1, p1-9. 9p.

تفاصيل العنوان

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.

• Authors : Yuan, Haiming; Wang, Qingming; Zeng, Xiumei

• Source: Orphanet Journal of Rare Diseases; 4/4/2022, Vol. 17 Issue 1, p1-7, 7p

تفاصيل العنوان

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.

• Authors : Mori-Yoshimura, Madoka; Suzuki, Naoki; Katsuno, Masahisa

Subjects: ORAL drug administration; MUSCLE diseases; SIALIC acidsJAPAN

• Source: Orphanet Journal of Rare Diseases; 8/11/2023, Vol. 18 Issue 1, p1-10, 10p

تفاصيل العنوان

Different electrophysiology patterns in GNE myopathy.

• Authors : Liu, Xiangyi; Zhang, Yingshuang; Zhang, Shuo

Subjects: ACTION potentials; MUSCLE diseases; MOTOR neuron diseases

• Source: Orphanet Journal of Rare Diseases; 5/19/2022, Vol. 17 Issue 1, p1-7, 7p

تفاصيل العنوان

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

• Authors : Sun, Bijun¹ (AUTHOR); Chen, Qiuyu¹ (AUTHOR); Wang, Ying¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/29/2020, Vol. 15 Issue 1, p1-9. 9p.

تفاصيل العنوان

Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

• Authors : Grünert, Sarah C.; Tucci, Sara; Schumann, Anke

Subjects: HEART transplantation; IMPLANTABLE cardioverter-defibrillators; CARDIAC arrest

• Source: Orphanet Journal of Rare Diseases; 4/10/2020, Vol. 15 Issue 1, p1-6, 6p

تفاصيل العنوان

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

• Authors : Jiao, Xianru; Xue, Jiao; Gong, Pan

Subjects: NEUROCYSTICERCOSIS; INFANTILE spasms; DEVELOPMENTAL delay

• Source: Orphanet Journal of Rare Diseases; 3/27/2020, Vol. 15 Issue 1, p1-12, 12p

تفاصيل العنوان