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View article: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Open
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 5…
View article: Efficacy of anti‐seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in <i>KCNT1</i>‐related epilepsy: A systematic review
Efficacy of anti‐seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in <i>KCNT1</i>‐related epilepsy: A systematic review Open
Objective KCNT1 ‐related epilepsies encompass three main phenotypes: (i) epilepsy of infancy with migrating focal seizures (EIMFS), (ii) autosomal dominant or sporadic sleep‐related hypermotor epilepsy [(AD)SHE], and (iii) different types …
View article: Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variants
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variants Open
The Aristaless-related homeobox ( ARX ) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of ARX -related disorders is well described in males, from …
View article: Radiologic Evolution after Scapholunate Dorsal Capsulodesis for Chronic Tears
Radiologic Evolution after Scapholunate Dorsal Capsulodesis for Chronic Tears Open
Background Many debates are still ongoing for the management of chronic scapholunate (SL) injuries. We have proposed an arthroscopic technique of dorsal capsulodesis with good clinical results. We now propose a radiological follow-up. Purp…
View article: STENER-LIKE LESIONS: AN INTERESTING CASE OF A STENER-LIKE LESION OF THE ULNAR COLLATERAL LIGAMENT (UCL) OF THE PROXIMAL INTERPHALANGEAL JOINT OF THE INDEX FINGER AFTER A PROXIMAL INTERPHALANGEAL JOINT TRAUMATIC DISLOCATION: CLINICAL AND RADIOLOGICAL FINDINGS, TREATMENT AND FOLLOW UP. A CASE REPORT
STENER-LIKE LESIONS: AN INTERESTING CASE OF A STENER-LIKE LESION OF THE ULNAR COLLATERAL LIGAMENT (UCL) OF THE PROXIMAL INTERPHALANGEAL JOINT OF THE INDEX FINGER AFTER A PROXIMAL INTERPHALANGEAL JOINT TRAUMATIC DISLOCATION: CLINICAL AND RADIOLOGICAL FINDINGS, TREATMENT AND FOLLOW UP. A CASE REPORT Open
The Stener lesion of the ulnar collateral ligament of the metacarpophalangeal (MP) joint of the thumb is characterized by an interposition of the adductor aponeurosis between a distally avulsed ligament and its insertion into the base of t…
View article: Wrist Basecamp: A New Digital Tool for Teaching Wrist Arthroscopy
Wrist Basecamp: A New Digital Tool for Teaching Wrist Arthroscopy Open
The treatment of wrist pathologies has been revolutionized by the advent and development of wrist arthroscopy. Since then, many indications have been modified and others continue to be developed every day. Although not part of the surgical…
View article: Intraneural Ganglion Cyst of The Ulnar Nerve Causing Cubital Tunnel Syndrome: Two Case Reports.
Intraneural Ganglion Cyst of The Ulnar Nerve Causing Cubital Tunnel Syndrome: Two Case Reports. Open
We present two cases of cubital tunnel syndrome caused by intraneural ganglia of the ulnar nerve at the elbow. This is a rare presentation for this type of ganglia, much more frequent at the peroneal nerve. An association between a history…
View article: A novel human pain insensitivity disorder caused by a point mutation in ZFHX2
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2 Open
Chronic pain is a major global public health issue causing a severe impact on both the quality of life for sufferers and the wider economy. Despite the significant clinical burden, little progress has been made in terms of therapeutic deve…