Accès ouvert
2026
article
OpenAlex
Saba Bibi, Asad Munir, Fawad Ali, Helen Nabiryo Frederiksen et autres
In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.Leu4045ArgfsTer8) in SACS correlating with disease in the affected family members.
pk, ch, fr
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Accès ouvert
2025
article
OpenAlex
Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah et autres
Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly …
pk, ch, fr
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2024
article
OpenAlex
Asad Munir, Inam Ullah Khan, Abdur Rashid, Ijaz Anwar et autres
BACKGROUND: Cone dystrophy is a heterogeneous hereditary retinal disorder with disease symptoms appearing in the late first or early second decades of life. METHODS: A consanguineous Pakistani family with three affected individuals underwent detailed clinical and genetic investigation. RESULTS: The proband, a …
pk, ch
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2004
article
OpenAlex
Malik Anas Rabbani, Bilal Karim Siddiqui, Muhammad Hammad Tahir, Bushra Ahmad et autres
Clinical features of systemic lupus erythematosus (SLE) have been described from different geographical regions in the world, with some clinical differences among different racial groups. Although data on the characteristics of SLE in Pakistan is scarce, it is not uncommon in the …
pk
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Accès ouvert
2003
article
OpenAlex
Malik Anas Rabbani, Sabawoon Shah, A. R. Ahmed
OBJECTIVE: Systemic Lupus Erythematosus (SLE) is an autoimmune process in which cutaneous lesions occur in majority of patients. This study from Karachi, Pakistan was conducted to determine the pattern and prevalence of such lesions in SLE in Pakistani patients. METHODS: One hundred …
Kenya
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